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dbVar

Database of genomic structural variation

nsv5580452

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:108

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: 105 SVs from 35 studies. See in: genome view

Submitted genomic43,012,538-43,012,645

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5580452	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	43,012,538	43,012,645
nsv5580452	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	43,054,030	43,054,137

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17124762	deletion	SAMN00001694	Sequencing	Sequence alignment	8,610

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17124762	Submitted genomic		NC_000003.12:g.430 12538_43012645delC	GRCh38 (hg38)		NC_000003.12	Chr3	43,012,538	43,012,645
nssv17124762	Remapped	Perfect	NC_000003.11:g.430 54030_43054137delC	GRCh37.p13	First Pass	NC_000003.11	Chr3	43,054,030	43,054,137

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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