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dbVar

Database of genomic structural variation

nsv5596587

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:48,235

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: 335 SVs from 38 studies. See in: genome view

Submitted genomic27,992,089-28,040,323

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5596587	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	27,992,089	28,040,323
nsv5596587	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	29,364,408	29,412,642

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17118844	deletion	SAMN00007703	Sequencing	Sequence alignment	1,054

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17118844	Submitted genomic		NC_000021.9:g.2799 2089_28040323delA	GRCh38 (hg38)		NC_000021.9	Chr21	27,992,089	28,040,323
nssv17118844	Remapped	Perfect	NC_000021.8:g.2936 4408_29412642delA	GRCh37.p13	First Pass	NC_000021.8	Chr21	29,364,408	29,412,642

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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