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dbVar

Database of genomic structural variation

nsv4649958

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element deletion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,285

Description:esv3871050 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: 190 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):74,426,086-74,432,370

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4649958	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	74,426,086	74,432,370
nsv4649958	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	75,000,223	75,006,507

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16183924	line1 deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16183924	Remapped	Perfect	NC_000013.11:g.744 26086_74432370del	GRCh38.p12	First Pass	NC_000013.11	Chr13	74,426,086	74,432,370
nssv16183924	Submitted genomic		NC_000013.10:g.750 00223_75006507del	GRCh37 (hg19)		NC_000013.10	Chr13	75,000,223	75,006,507

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)
nssv16183924	0.013	64	5008

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