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dbVar

Database of genomic structural variation

nsv5551569

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: 239 SVs from 17 studies. See in: genome view

Submitted genomic132,721,879-132,721,879

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5551569	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	132,721,879	132,721,879
nsv5551569	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	131,855,907	131,855,907

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17742381	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17742381	Submitted genomic		NC_000023.11:g.132 721879_132721880in s192	GRCh38 (hg38)		NC_000023.11	ChrX	132,721,879	132,721,879
nssv17742381	Remapped	Perfect	NC_000023.10:g.131 855907_131855908in s192	GRCh37.p13	First Pass	NC_000023.10	ChrX	131,855,907	131,855,907

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)
nssv17742381	<0.001	0	4006

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