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dbVar

Database of genomic structural variation

nsv4673269

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:76,469

Description:esv3820634 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: 143 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):88,607-165,075

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4673269	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NT_187361.1	Chr1\|NT_18 7361.1	88,607	165,075
nsv4673269	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	143,206,368	143,282,836

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16186682	copy number loss	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16186682	Remapped	Perfect	NT_187361.1:g.8860 7_165075del	GRCh38.p12	First Pass	NT_187361.1	Chr1\|NT_18 7361.1	88,607	165,075
nssv16186682	Submitted genomic		NC_000001.10:g.143 206368_143282836de l	GRCh37 (hg19)		NC_000001.10	Chr1	143,206,368	143,282,836

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)
nssv16186682	0.024	121	5008

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