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dbVar

Database of genomic structural variation

nsv5549045

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:89

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: 153 SVs from 23 studies. See in: genome view

Submitted genomic125,098,624-125,098,712

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5549045	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	125,098,624	125,098,712
nsv5549045	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	126,787,193	126,787,281

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17038901	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17038901	Submitted genomic		NC_000010.11:g.125 098624_125098712in s64	GRCh38 (hg38)		NC_000010.11	Chr10	125,098,624	125,098,712
nssv17038901	Remapped	Perfect	NC_000010.10:g.126 787193_126787281in s64	GRCh37.p13	First Pass	NC_000010.10	Chr10	126,787,193	126,787,281

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)
nssv17038901	0.038	240	6312

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