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dbVar

Database of genomic structural variation

nsv4367543

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:77,687

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: 1290 SVs from 101 studies. See in: genome view

Remapped(Score: Perfect):196,858,712-196,936,398

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4367543	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	196,858,712	196,936,398
nsv4367543	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	196,827,842	196,905,528

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15614147	copy number gain	1-0765-003	SNP array	Genotyping	26
nssv15619016	copy number loss	1-0181-001	SNP array	Genotyping	15

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15614147	Remapped	Perfect	NC_000001.11:g.(?_ 196858712)_(196936 398_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,858,712	196,936,398
nssv15619016	Remapped	Perfect	NC_000001.11:g.(?_ 196858712)_(196936 398_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,858,712	196,936,398
nssv15614147	Submitted genomic		NC_000001.10:g.(?_ 196827842)_(196905 528_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	196,827,842	196,905,528
nssv15619016	Submitted genomic		NC_000001.10:g.(?_ 196827842)_(196905 528_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	196,827,842	196,905,528

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

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