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dbVar

Database of genomic structural variation

nsv5576197

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:60

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 22 studies. See in: genome view

Submitted genomic21,000,951-21,001,010

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5576197	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	21,000,951	21,001,010
nsv5576197	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	21,223,823	21,223,882

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17110012	deletion	NA12329	Sequencing	Sequence alignment	1,517

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17110012	Submitted genomic		NC_000002.12:g.210 00951_21001010delG	GRCh38 (hg38)		NC_000002.12	Chr2	21,000,951	21,001,010
nssv17110012	Remapped	Perfect	NC_000002.11:g.212 23823_21223882delG	GRCh37.p13	First Pass	NC_000002.11	Chr2	21,223,823	21,223,882

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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