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dbVar

Database of genomic structural variation

nsv5597599

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:66

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: 246 SVs from 42 studies. See in: genome view

Submitted genomic49,269,240-49,269,305

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5597599	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	49,269,240	49,269,305
nsv5597599	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	49,843,376	49,843,441

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17093217	deletion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17093217	Submitted genomic		NC_000013.11:g.492 69240_49269305delA	GRCh38 (hg38)		NC_000013.11	Chr13	49,269,240	49,269,305
nssv17093217	Remapped	Perfect	NC_000013.10:g.498 43376_49843441delA	GRCh37.p13	First Pass	NC_000013.10	Chr13	49,843,376	49,843,441

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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