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dbVar

Database of genomic structural variation

nsv4642973

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:6,227

Description:esv3844048 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: 127 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):24,811,578-24,817,804

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4642973	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	24,811,578	24,817,804
nsv4642973	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	24,811,806	24,818,032

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16200242	line1 deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16200242	Remapped	Perfect	NC_000006.12:g.248 11578_24817804del	GRCh38.p12	First Pass	NC_000006.12	Chr6	24,811,578	24,817,804
nssv16200242	Submitted genomic		NC_000006.11:g.248 11806_24818032del	GRCh37 (hg19)		NC_000006.11	Chr6	24,811,806	24,818,032

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)
nssv16200242	0.758	3797	5008

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