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dbVar

Database of genomic structural variation

nsv6493610

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:3,000

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: 116 SVs from 26 studies. See in: genome view

Submitted genomic122,020,201-122,023,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6493610	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	122,020,201	122,023,200
nsv6493610	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	122,458,107	122,461,106

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17997830	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17997830	Submitted genomic		NC_000012.12:g.122 020201_122023200de l	GRCh38 (hg38)		NC_000012.12	Chr12	122,020,201	122,023,200
nssv17997830	Remapped	Perfect	NC_000012.11:g.122 458107_122461106de l	GRCh37.p13	First Pass	NC_000012.11	Chr12	122,458,107	122,461,106

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)
nssv17997830	0.028	978	34656

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