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dbVar

Database of genomic structural variation

nsv5593034

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:437

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: 107 SVs from 28 studies. See in: genome view

Submitted genomic52,180,539-52,180,975

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5593034	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	52,180,539	52,180,975
nsv5593034	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	52,574,323	52,574,759

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17092204	deletion	SAMN00249812	Sequencing	Sequence alignment	1,255

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17092204	Submitted genomic		NC_000012.12:g.521 80539_52180975delC	GRCh38 (hg38)		NC_000012.12	Chr12	52,180,539	52,180,975
nssv17092204	Remapped	Perfect	NC_000012.11:g.525 74323_52574759delC	GRCh37.p13	First Pass	NC_000012.11	Chr12	52,574,323	52,574,759

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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