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dbVar

Database of genomic structural variation

nsv4723372

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:nsv4567694 from gnomAD Structural Variants. 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: 108 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):128,292,999-128,292,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4723372	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	128,292,999	128,292,999
nsv4723372	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	128,777,544	128,777,544

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16217298	line1 insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16217298	Remapped	Perfect	NC_000012.12:g.128 292999_128293000in s?	GRCh38.p12	First Pass	NC_000012.12	Chr12	128,292,999	128,292,999
nssv16217298	Submitted genomic		NC_000012.11:g.128 777544_128777545in s?	GRCh37 (hg19)		NC_000012.11	Chr12	128,777,544	128,777,544

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)
nssv16217298	0.02	431	21656

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