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dbVar

Database of genomic structural variation

nsv6113746

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:nsv5420949 from Byrska-Bishop et. al 2021. 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: 101 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):91,848,754-91,848,754

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6113746	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	91,848,754	91,848,754
nsv6113746	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	92,242,530	92,242,530

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968566	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968566	Remapped	Perfect	NC_000012.12:g.918 48754_91848755ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	91,848,754	91,848,754
nssv17968566	Submitted genomic		NC_000012.11:g.922 42530_92242531ins?	GRCh37 (hg19)		NC_000012.11	Chr12	92,242,530	92,242,530

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)
nssv17968566	0.04	255	6380

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