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dbVar

Database of genomic structural variation

nsv4367801

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:1,103,566

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: 5760 SVs from 117 studies. See in: genome view

Remapped(Score: Perfect):7,186,524-8,290,089

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4367801	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	7,186,524	8,290,089
nsv4367801	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	7,044,046	8,147,611

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15650047	copy number gain	2-1292-002	SNP array	Genotyping	19
nssv15681158	copy number gain	239189S	SNP array	Genotyping	27
nssv15681995	copy number gain	211605	SNP array	Genotyping	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15650047	Remapped	Perfect	NC_000008.11:g.(?_ 7186524)_(8290089_ ?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	7,186,524	8,290,089
nssv15681158	Remapped	Perfect	NC_000008.11:g.(?_ 7186524)_(8290089_ ?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	7,186,524	8,290,089
nssv15681995	Remapped	Perfect	NC_000008.11:g.(?_ 7186524)_(8290089_ ?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	7,186,524	8,290,089
nssv15650047	Submitted genomic		NC_000008.10:g.(?_ 7044046)_(8147611_ ?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	7,044,046	8,147,611
nssv15681158	Submitted genomic		NC_000008.10:g.(?_ 7044046)_(8147611_ ?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	7,044,046	8,147,611
nssv15681995	Submitted genomic		NC_000008.10:g.(?_ 7044046)_(8147611_ ?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	7,044,046	8,147,611

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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