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dbVar

Database of genomic structural variation

nsv4690772

Organism: Homo sapiens

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

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

Description:esv3884385 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: 98 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):57,125,660-57,125,660

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4690772	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	57,125,660	57,125,660
nsv4690772	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	57,637,028	57,637,028

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16224708	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16224708	Remapped	Perfect	NC_000019.10:g.571 25660_57125661ins?	GRCh38.p12	First Pass	NC_000019.10	Chr19	57,125,660	57,125,660
nssv16224708	Submitted genomic		NC_000019.9:g.5763 7028_57637029ins?	GRCh37 (hg19)		NC_000019.9	Chr19	57,637,028	57,637,028

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)
nssv16224708	0.095	475	5008

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