nsv4378917

Organism: Homo sapiens

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

Variant Calls:22
Validation:Not tested
Clinical Assertions: No
Region Size:34,987

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: 599 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):53,013,989-53,048,975

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4378917	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nsv4378917	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	53,517,242	53,552,228

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15612326	copy number gain	1-0665-001	SNP array	Genotyping	24
nssv15619476	copy number gain	1-0924-003	SNP array	Genotyping	24
nssv15633612	copy number gain	11-0032-003	SNP array	Genotyping	17
nssv15633655	copy number gain	12-4098-004	SNP array	Genotyping	28
nssv15634457	copy number gain	11-0041-004	SNP array	Genotyping	16
nssv15636405	copy number gain	13-0049-002	SNP array	Genotyping	32
nssv15640725	copy number gain	14-0376-004	SNP array	Genotyping	25
nssv15642353	copy number gain	15-1117-001	SNP array	Genotyping	20
nssv15642509	copy number gain	15-1120-002	SNP array	Genotyping	17
nssv15642873	copy number gain	15-1111-002	SNP array	Genotyping	20
nssv15644702	copy number gain	16-1000-004	SNP array	Genotyping	25
nssv15647991	copy number gain	2-1322-003	SNP array	Genotyping	23
nssv15648280	copy number gain	2-1272-006	SNP array	Genotyping	10
nssv15648857	copy number gain	2-1322-002	SNP array	Genotyping	24
nssv15659339	copy number gain	3-0650-000	SNP array	Genotyping	15
nssv15659513	copy number gain	3-0741-000	SNP array	Genotyping	23
nssv15659696	copy number gain	4-0070-002	SNP array	Genotyping	20
nssv15662281	copy number gain	4-0081-003	SNP array	Genotyping	20
nssv15677187	copy number gain	235974S	SNP array	Genotyping	23
nssv15677343	copy number gain	242267S	SNP array	Genotyping	14
nssv15680598	copy number gain	215105	SNP array	Genotyping	32
nssv15680854	copy number gain	232715S	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15612326	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15619476	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15633612	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15633655	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15634457	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15636405	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15640725	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15642353	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15642509	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15642873	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15644702	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15647991	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15648280	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15648857	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15659339	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15659513	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15659696	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15662281	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15677187	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15677343	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15680598	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15680854	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,048,975
nssv15612326	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15619476	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15633612	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15633655	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15634457	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15636405	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15640725	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15642353	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15642509	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15642873	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15644702	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15647991	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15648280	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15648857	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15659339	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15659513	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15659696	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15662281	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15677187	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15677343	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15680598	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228
nssv15680854	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,552,228

dbVar

Database of genomic structural variation

nsv4378917

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