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dbVar

Database of genomic structural variation

nsv5583654

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:3,535

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: 198 SVs from 36 studies. See in: genome view

Submitted genomic113,136,438-113,139,972

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5583654	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	113,136,438	113,139,972
nsv5583654	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	112,472,135	112,475,669

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17125209	deletion	HG03732	Sequencing	Sequence alignment	1,582

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17125209	Submitted genomic		NC_000005.10:g.113 136438_113139972de lT	GRCh38 (hg38)		NC_000005.10	Chr5	113,136,438	113,139,972
nssv17125209	Remapped	Perfect	NC_000005.9:g.1124 72135_112475669del T	GRCh37.p13	First Pass	NC_000005.9	Chr5	112,472,135	112,475,669

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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