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dbVar

Database of genomic structural variation

nsv5566189

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:572

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: 161 SVs from 30 studies. See in: genome view

Submitted genomic139,448,558-139,449,129

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5566189	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	139,448,558	139,449,129
nsv5566189	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	139,133,304	139,133,875

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17146004	deletion	HG03065	Sequencing	Sequence alignment	3,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17146004	Submitted genomic		NC_000007.14:g.139 448558_139449129de lA	GRCh38 (hg38)		NC_000007.14	Chr7	139,448,558	139,449,129
nssv17146004	Remapped	Perfect	NC_000007.13:g.139 133304_139133875de lA	GRCh37.p13	First Pass	NC_000007.13	Chr7	139,133,304	139,133,875

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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