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dbVar

Database of genomic structural variation

nsv5535830

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: 83 SVs from 20 studies. See in: genome view

Submitted genomic50,391,118-50,391,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5535830	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	50,391,118	50,391,118
nsv5535830	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	50,894,375	50,894,375

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17724099	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17724099	Submitted genomic		NC_000019.10:g.503 91118_50391119ins2 10	GRCh38 (hg38)		NC_000019.10	Chr19	50,391,118	50,391,118
nssv17724099	Remapped	Perfect	NC_000019.9:g.5089 4375_50894376ins21 0	GRCh37.p13	First Pass	NC_000019.9	Chr19	50,894,375	50,894,375

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)
nssv17724099	0.047	284	6068

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