Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4643854

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:48,296

Description:esv3841221 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: 814 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):97,712,156-97,760,451

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4643854	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	97,712,156	97,760,451
nsv4643854	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	97,047,860	97,096,155

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16193116	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16193116	Remapped	Perfect	NC_000005.10:g.977 12156_97760451del	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,156	97,760,451
nssv16193116	Submitted genomic		NC_000005.9:g.9704 7860_97096155del	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,860	97,096,155

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)
nssv16193116	0.011	54	5008

You are here: NCBI