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dbVar

Database of genomic structural variation

nsv5567021

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:62

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: 260 SVs from 43 studies. See in: genome view

Submitted genomic174,265,236-174,265,297

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5567021	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	174,265,236	174,265,297
nsv5567021	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	175,186,387	175,186,448

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17121430	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
nssv17121430	Submitted genomic		NC_000004.12:g.174 265236_174265297de lA	GRCh38 (hg38)		NC_000004.12	Chr4	174,265,236	174,265,297
nssv17121430	Remapped	Perfect	NC_000004.11:g.175 186387_175186448de lA	GRCh37.p13	First Pass	NC_000004.11	Chr4	175,186,387	175,186,448

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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