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

dbVar

Database of genomic structural variation

nsv4652034

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:351

Description:esv3878924 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: 173 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):10,300,104-10,300,454

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4652034	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	10,300,104	10,300,454
nsv4652034	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	10,203,421	10,203,771

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16197684	alu deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16197684	Remapped	Perfect	NC_000017.11:g.103 00104_10300454del	GRCh38.p12	First Pass	NC_000017.11	Chr17	10,300,104	10,300,454
nssv16197684	Submitted genomic		NC_000017.10:g.102 03421_10203771del	GRCh37 (hg19)		NC_000017.10	Chr17	10,203,421	10,203,771

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)
nssv16197684	0.478	2392	5008

You are here: NCBI