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dbVar

Database of genomic structural variation

nsv5570059

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:54

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

Submitted genomic181,208,256-181,208,309

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5570059	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	181,208,256	181,208,309
nsv5570059	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	180,635,256	180,635,309

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17135404	deletion	SAMN00001694	Sequencing	Sequence alignment	8,610

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17135404	Submitted genomic		NC_000005.10:g.181 208256_181208309de lA	GRCh38 (hg38)		NC_000005.10	Chr5	181,208,256	181,208,309
nssv17135404	Remapped	Perfect	NC_000005.9:g.1806 35256_180635309del A	GRCh37.p13	First Pass	NC_000005.9	Chr5	180,635,256	180,635,309

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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