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dbVar

Database of genomic structural variation

nsv6212431

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Naslavsky et al. 2022

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: 96 SVs from 23 studies. See in: genome view

Submitted genomic109,850,402-109,850,402

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6212431	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	109,850,402	109,850,402
nsv6212431	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	110,771,558	110,771,558

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17882885	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17882885	Submitted genomic		NC_000004.12:g.109 850402_109850403in s53	GRCh38 (hg38)		NC_000004.12	Chr4	109,850,402	109,850,402
nssv17882885	Remapped	Perfect	NC_000004.11:g.110 771558_110771559in s53	GRCh37.p13	First Pass	NC_000004.11	Chr4	110,771,558	110,771,558

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17882885	<0.001	1	2222

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