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dbVar

Database of genomic structural variation

nsv5556075

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

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

Submitted genomic129,543,789-129,543,840

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5556075	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	129,543,789	129,543,840
nsv5556075	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	128,677,766	128,677,817

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17737550	line1 insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17737550	Submitted genomic		NC_000023.11:g.129 543789_129543840in s6017	GRCh38 (hg38)		NC_000023.11	ChrX	129,543,789	129,543,840
nssv17737550	Remapped	Perfect	NC_000023.10:g.128 677766_128677817in s6017	GRCh37.p13	First Pass	NC_000023.10	ChrX	128,677,766	128,677,817

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)
nssv17737550	<0.001	1	6404

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