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dbVar

Database of genomic structural variation

nsv6289779

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

Submitted genomic71,700,201-71,700,201

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289779	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	71,700,201	71,700,201
nsv6289779	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	72,166,918	72,166,918

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17932529	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17932529	Submitted genomic		NC_000014.9:g.7170 0201_71700202ins51	GRCh38 (hg38)		NC_000014.9	Chr14	71,700,201	71,700,201
nssv17932529	Remapped	Perfect	NC_000014.8:g.7216 6918_72166919ins51	GRCh37.p13	First Pass	NC_000014.8	Chr14	72,166,918	72,166,918

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)
nssv17932529	0.002	4	2342

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