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dbVar

Database of genomic structural variation

nsv5979492

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Almarri et al. 2020

Links to Other Resources

Overlapping Genes

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: 125 SVs from 30 studies. See in: genome view

Submitted genomic128,686,057-128,686,057

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5979492	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	128,686,057	128,686,057
nsv5979492	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	129,170,602	129,170,602

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17353313	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17353313	Submitted genomic		NC_000012.12:g.128 686057_128686058in s55	GRCh38 (hg38)		NC_000012.12	Chr12	128,686,057	128,686,057
nssv17353313	Remapped	Perfect	NC_000012.11:g.129 170602_129170603in s55	GRCh37.p13	First Pass	NC_000012.11	Chr12	129,170,602	129,170,602

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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