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dbVar

Database of genomic structural variation

nsv5598488

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:130

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: 134 SVs from 39 studies. See in: genome view

Submitted genomic62,270,578-62,270,707

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5598488	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	62,270,578	62,270,707
nsv5598488	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	60,845,634	60,845,763

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17117608	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17117608	Submitted genomic		NC_000020.11:g.622 70578_62270707delC	GRCh38 (hg38)		NC_000020.11	Chr20	62,270,578	62,270,707
nssv17117608	Remapped	Perfect	NC_000020.10:g.608 45634_60845763delC	GRCh37.p13	First Pass	NC_000020.10	Chr20	60,845,634	60,845,763

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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