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dbVar

Database of genomic structural variation

nsv5540055

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:193

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

Submitted genomic50,717,811-50,718,003

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5540055	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	50,717,811	50,718,003
nsv5540055	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	51,111,594	51,111,786

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17058513	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17058513	Submitted genomic		NC_000012.12:g.507 17811_50718003ins1 29	GRCh38 (hg38)		NC_000012.12	Chr12	50,717,811	50,718,003
nssv17058513	Remapped	Perfect	NC_000012.11:g.511 11594_51111786ins1 29	GRCh37.p13	First Pass	NC_000012.11	Chr12	51,111,594	51,111,786

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)
nssv17058513	<0.001	4	6398

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