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dbVar

Database of genomic structural variation

nsv5584774

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:324

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: 144 SVs from 33 studies. See in: genome view

Submitted genomic4,820,133-4,820,456

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5584774	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	4,820,133	4,820,456
nsv5584774	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	4,723,428	4,723,751

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17082229	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
nssv17082229	Submitted genomic		NC_000017.11:g.482 0133_4820456delG	GRCh38 (hg38)		NC_000017.11	Chr17	4,820,133	4,820,456
nssv17082229	Remapped	Perfect	NC_000017.10:g.472 3428_4723751delG	GRCh37.p13	First Pass	NC_000017.10	Chr17	4,723,428	4,723,751

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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