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dbVar

Database of genomic structural variation

nsv5592516

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:50

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: 310 SVs from 45 studies. See in: genome view

Submitted genomic15,031,053-15,031,102

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5592516	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	15,031,053	15,031,102
nsv5592516	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	16,403,374	16,403,423

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17118243	deletion	SAMN00016965	Sequencing	Sequence alignment	1,475

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17118243	Submitted genomic		NC_000021.9:g.1503 1053_15031102delT	GRCh38 (hg38)		NC_000021.9	Chr21	15,031,053	15,031,102
nssv17118243	Remapped	Perfect	NC_000021.8:g.1640 3374_16403423delT	GRCh37.p13	First Pass	NC_000021.8	Chr21	16,403,374	16,403,423

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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