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dbVar

Database of genomic structural variation

nsv4643026

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:55,819

Description:esv3853507 from 1000 Genomes Consortium Phase 3 Integrated SV. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 1539 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):39,374,486-39,430,304

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4643026	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	39,374,486	39,430,304
nsv4643026	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	39,232,005	39,287,823

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16197195	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16197195	Remapped	Perfect	NC_000008.11:g.393 74486_39430304del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,374,486	39,430,304
nssv16197195	Submitted genomic		NC_000008.10:g.392 32005_39287823del	GRCh37 (hg19)		NC_000008.10	Chr8	39,232,005	39,287,823

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16197195	0.266	1333	5008

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