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dbVar

Database of genomic structural variation

nsv6279164

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: 83 SVs from 18 studies. See in: genome view

Submitted genomic46,972,289-46,972,289

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6279164	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	46,972,289	46,972,289
nsv6279164	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	46,974,306	46,974,306

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17888420	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17888420	Submitted genomic		NC_000004.12:g.469 72289_46972290ins5 7	GRCh38 (hg38)		NC_000004.12	Chr4	46,972,289	46,972,289
nssv17888420	Remapped	Perfect	NC_000004.11:g.469 74306_46974307ins5 7	GRCh37.p13	First Pass	NC_000004.11	Chr4	46,974,306	46,974,306

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)
nssv17888420	<0.001	1	2342

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