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dbVar

Database of genomic structural variation

nsv5544381

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: 118 SVs from 34 studies. See in: genome view

Submitted genomic41,300,510-41,300,510

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5544381	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	41,300,510	41,300,510
nsv5544381	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	41,696,514	41,696,514

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17729137	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17729137	Submitted genomic		NC_000022.11:g.413 00510_41300511ins3 500	GRCh38 (hg38)		NC_000022.11	Chr22	41,300,510	41,300,510
nssv17729137	Remapped	Perfect	NC_000022.10:g.416 96514_41696515ins3 500	GRCh37.p13	First Pass	NC_000022.10	Chr22	41,696,514	41,696,514

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)
nssv17729137	0.687	4335	6310

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