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dbVar

Database of genomic structural variation

nsv5534216

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:177

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: 89 SVs from 22 studies. See in: genome view

Submitted genomic90,694,720-90,694,896

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5534216	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	90,694,720	90,694,896
nsv5534216	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	91,161,064	91,161,240

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17697209	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17697209	Submitted genomic		NC_000014.9:g.9069 4720_90694896ins42 1	GRCh38 (hg38)		NC_000014.9	Chr14	90,694,720	90,694,896
nssv17697209	Remapped	Perfect	NC_000014.8:g.9116 1064_91161240ins42 1	GRCh37.p13	First Pass	NC_000014.8	Chr14	91,161,064	91,161,240

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)
nssv17697209	0.474	3033	6404

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