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dbVar

Database of genomic structural variation

nsv5666093

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:46,615

Publication(s):Ebert et al. 2021

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: 433 SVs from 48 studies. See in: genome view

Submitted genomic71,703,190-71,749,804

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5666093	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	71,703,190	71,749,804
nsv5666093	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	70,923,040	70,969,654

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17167743	deletion	SAMN00007824	Sequencing	Sequence alignment	1,699

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17167743	Submitted genomic		NC_000023.11:g.717 03190_71749804delA	GRCh38 (hg38)		NC_000023.11	ChrX	71,703,190	71,749,804
nssv17167743	Remapped	Perfect	NC_000023.10:g.709 23040_70969654delA	GRCh37.p13	First Pass	NC_000023.10	ChrX	70,923,040	70,969,654

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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