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dbVar

Database of genomic structural variation

nsv5597687

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:151

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: 126 SVs from 29 studies. See in: genome view

Submitted genomic32,179,840-32,179,990

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5597687	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	32,179,840	32,179,990
nsv5597687	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	30,506,859	30,507,009

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17080455	deletion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17080455	Submitted genomic		NC_000017.11:g.321 79840_32179990delG	GRCh38 (hg38)		NC_000017.11	Chr17	32,179,840	32,179,990
nssv17080455	Remapped	Perfect	NC_000017.10:g.305 06859_30507009delG	GRCh37.p13	First Pass	NC_000017.10	Chr17	30,506,859	30,507,009

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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