nsv4387944

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:45
Validation:Not tested
Clinical Assertions: No
Region Size:27,198

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 249 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):17,040,040-17,067,237

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4387944	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nsv4387944	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	17,221,307	17,248,504

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15613950	copy number loss	1-0709-004	SNP array	Genotyping	12
nssv15614294	copy number loss	1-0741-003	SNP array	Genotyping	16
nssv15616264	copy number loss	1-0144-004	SNP array	Genotyping	25
nssv15617148	copy number loss	1-0144-001	SNP array	Genotyping	21
nssv15621115	copy number loss	1-1010-001	SNP array	Genotyping	15
nssv15621762	copy number loss	1-1010-004	SNP array	Genotyping	27
nssv15625809	copy number loss	1-0376-003	SNP array	Genotyping	24
nssv15626685	copy number loss	1-0465-003	SNP array	Genotyping	14
nssv15630733	copy number loss	1-0619-003	SNP array	Genotyping	25
nssv15632339	copy number loss	10-0002-003	SNP array	Genotyping	22
nssv15632547	copy number loss	10-1005-003	SNP array	Genotyping	20
nssv15634176	copy number loss	10-1155-005	SNP array	Genotyping	22
nssv15642854	copy number loss	15-1111-001	SNP array	Genotyping	18
nssv15642874	copy number loss	15-1111-002	SNP array	Genotyping	20
nssv15643707	copy number loss	2-0122-002	SNP array	Genotyping	19
nssv15644636	copy number loss	16-1000-001	SNP array	Genotyping	21
nssv15644685	copy number loss	16-1000-003	SNP array	Genotyping	23
nssv15646640	copy number loss	2-1272-002	SNP array	Genotyping	19
nssv15646671	copy number loss	2-1272-004	SNP array	Genotyping	16
nssv15646687	copy number loss	2-1272-005	SNP array	Genotyping	14
nssv15647005	copy number loss	2-1213-002	SNP array	Genotyping	24
nssv15647027	copy number loss	2-1213-003	SNP array	Genotyping	27
nssv15651248	copy number loss	2-1369-002	SNP array	Genotyping	14
nssv15651261	copy number loss	2-1369-003	SNP array	Genotyping	18
nssv15652636	copy number loss	2-1565-003	SNP array	Genotyping	21
nssv15657506	copy number loss	4-0027-003	SNP array	Genotyping	23
nssv15658037	copy number loss	3-0537-000	SNP array	Genotyping	20
nssv15658138	copy number loss	3-0624-000	SNP array	Genotyping	26
nssv15658829	copy number loss	3-0611-000	SNP array	Genotyping	19
nssv15660418	copy number loss	3-0735-000	SNP array	Genotyping	22
nssv15670645	copy number loss	7-0200-003	SNP array	Genotyping	24
nssv15672161	copy number loss	9-0015-001	SNP array	Genotyping	29
nssv15675713	copy number loss	206767	SNP array	Genotyping	17
nssv15677669	copy number loss	216467	SNP array	Genotyping	16
nssv15677847	copy number loss	218115	SNP array	Genotyping	26
nssv15680208	copy number loss	222686	SNP array	Genotyping	19
nssv15680907	copy number loss	246360S	SNP array	Genotyping	24
nssv15682867	copy number loss	OCD119-B_1727	SNP array	Genotyping	18
nssv15682885	copy number loss	OCD119-S_1725	SNP array	Genotyping	19
nssv15685005	copy number loss	OCD157-LB-1283(190122)	SNP array	Genotyping	17
nssv15685329	copy number loss	OCD117-S_1697	SNP array	Genotyping	20
nssv15688906	copy number loss	225326	SNP array	Genotyping	17
nssv15698172	copy number loss	125666	SNP array	Genotyping	25
nssv15699826	copy number loss	162780	SNP array	Genotyping	22
nssv15700451	copy number loss	226749	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15613950	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15614294	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15616264	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15617148	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15621115	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15621762	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15625809	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15626685	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15630733	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15632339	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15632547	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15634176	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15642854	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15642874	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15643707	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15644636	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15644685	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15646640	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15646671	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15646687	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15647005	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15647027	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15651248	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15651261	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15652636	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15657506	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15658037	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15658138	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15658829	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15660418	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15670645	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15672161	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15675713	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15677669	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15677847	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15680208	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15680907	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15682867	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15682885	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15685005	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15685329	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15688906	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15698172	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15699826	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15700451	Remapped	Perfect	NC_000002.12:g.(?_ 17040040)_(1706723 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	17,040,040	17,067,237
nssv15613950	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15614294	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15616264	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15617148	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15621115	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15621762	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15625809	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15626685	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15630733	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15632339	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15632547	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15634176	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15642854	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15642874	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15643707	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15644636	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15644685	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15646640	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15646671	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15646687	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15647005	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15647027	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15651248	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15651261	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15652636	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15657506	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15658037	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15658138	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15658829	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15660418	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15670645	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15672161	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15675713	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15677669	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15677847	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15680208	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15680907	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15682867	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15682885	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15685005	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15685329	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15688906	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15698172	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15699826	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504
nssv15700451	Submitted genomic		NC_000002.11:g.(?_ 17221307)_(1724850 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	17,221,307	17,248,504

dbVar

Database of genomic structural variation

nsv4387944

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant