nsv4384041

Organism: Homo sapiens

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

Variant Calls:19
Validation:Not tested
Clinical Assertions: No
Region Size:26,695

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: 575 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):53,022,281-53,048,975

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384041	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nsv4384041	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	53,525,534	53,552,228

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15620708	copy number gain	1-0993-003	SNP array	Genotyping	21
nssv15630042	copy number gain	1-0599-005	SNP array	Genotyping	23
nssv15631719	copy number gain	10-0014-002	SNP array	Genotyping	26
nssv15634920	copy number gain	12-4425-001	SNP array	Genotyping	15
nssv15635040	copy number gain	12-4453-001	SNP array	Genotyping	16
nssv15636117	copy number gain	13-0109-001	SNP array	Genotyping	22
nssv15637177	copy number gain	12-4855-003	SNP array	Genotyping	27
nssv15637288	copy number gain	13-0053-001	SNP array	Genotyping	20
nssv15637959	copy number gain	14-0033-004	SNP array	Genotyping	22
nssv15638767	copy number gain	14-0033-001	SNP array	Genotyping	20
nssv15639273	copy number gain	14-0284-003	SNP array	Genotyping	25
nssv15639324	copy number gain	14-0139-004	SNP array	Genotyping	19
nssv15640150	copy number gain	14-0119-001	SNP array	Genotyping	20
nssv15641828	copy number gain	14-0276-003	SNP array	Genotyping	15
nssv15644196	copy number gain	16-1003-004	SNP array	Genotyping	20
nssv15646686	copy number gain	2-1272-005	SNP array	Genotyping	14
nssv15660878	copy number gain	4-0053-003	SNP array	Genotyping	20
nssv15670118	copy number gain	7-0258-003	SNP array	Genotyping	21
nssv15673187	copy number gain	9-0029-002	SNP array	Genotyping	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15620708	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15630042	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15631719	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15634920	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15635040	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15636117	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15637177	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15637288	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15637959	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15638767	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15639273	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15639324	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15640150	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15641828	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15644196	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15646686	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15660878	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15670118	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15673187	Remapped	Perfect	NC_000019.10:g.(?_ 53022281)_(5304897 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,022,281	53,048,975
nssv15620708	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15630042	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15631719	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15634920	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15635040	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15636117	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15637177	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15637288	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15637959	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15638767	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15639273	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15639324	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15640150	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15641828	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15644196	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15646686	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15660878	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15670118	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228
nssv15673187	Submitted genomic		NC_000019.9:g.(?_5 3525534)_(53552228 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,525,534	53,552,228

dbVar

Database of genomic structural variation

nsv4384041

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