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dbVar

Database of genomic structural variation

nsv5538639

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:36

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: 306 SVs from 35 studies. See in: genome view

Submitted genomic643,120-643,155

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5538639	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	643,120	643,155
nsv5538639	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	643,120	643,155

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17720104	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17720104	Submitted genomic		NC_000019.10:g.643 120_643155ins53	GRCh38 (hg38)		NC_000019.10	Chr19	643,120	643,155
nssv17720104	Remapped	Perfect	NC_000019.9:g.6431 20_643155ins53	GRCh37.p13	First Pass	NC_000019.9	Chr19	643,120	643,155

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)
nssv17720104	0.658	4211	6404

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