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dbVar

Database of genomic structural variation

nsv6473443

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:4,057

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: 108 SVs from 33 studies. See in: genome view

Submitted genomic50,968,829-50,972,885

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6473443	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	50,968,829	50,972,885
nsv6473443	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	51,362,612	51,366,668

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18001291	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18001291	Submitted genomic		NC_000012.12:g.509 68829_50972885del	GRCh38 (hg38)		NC_000012.12	Chr12	50,968,829	50,972,885
nssv18001291	Remapped	Perfect	NC_000012.11:g.513 62612_51366668del	GRCh37.p13	First Pass	NC_000012.11	Chr12	51,362,612	51,366,668

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18001291	<0.001	2	38986

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