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dbVar

Database of genomic structural variation

nsv5541134

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop 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):Byrska-Bishop 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: 106 SVs from 30 studies. See in: genome view

Submitted genomic67,396,258-67,396,258

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5541134	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	67,396,258	67,396,258
nsv5541134	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	67,862,975	67,862,975

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17698266	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17698266	Submitted genomic		NC_000014.9:g.6739 6258_67396259ins32 64	GRCh38 (hg38)		NC_000014.9	Chr14	67,396,258	67,396,258
nssv17698266	Remapped	Perfect	NC_000014.8:g.6786 2975_67862976ins32 64	GRCh37.p13	First Pass	NC_000014.8	Chr14	67,862,975	67,862,975

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)
nssv17698266	0.455	2779	6110

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