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dbVar

Database of genomic structural variation

nsv6289782

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 18 studies. See in: genome view

Submitted genomic61,966,087-61,966,087

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289782	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	61,966,087	61,966,087
nsv6289782	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	62,432,805	62,432,805

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17940067	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17940067	Submitted genomic		NC_000014.9:g.6196 6087_61966088ins59	GRCh38 (hg38)		NC_000014.9	Chr14	61,966,087	61,966,087
nssv17940067	Remapped	Perfect	NC_000014.8:g.6243 2805_62432806ins59	GRCh37.p13	First Pass	NC_000014.8	Chr14	62,432,805	62,432,805

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)
nssv17940067	0.002	5	2320

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