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dbVar

Database of genomic structural variation

nsv6399712

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:92,405

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: 2771 SVs from 104 studies. See in: genome view

Submitted genomic31,253,244-31,345,648

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6399712	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	31,253,244	31,345,648
nsv6399712	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,221,021	31,313,425

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18142069	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18142069	Submitted genomic		NC_000006.12:g.312 53244_31345648del	GRCh38 (hg38)		NC_000006.12	Chr6	31,253,244	31,345,648
nssv18142069	Remapped	Perfect	NC_000006.11:g.312 21021_31313425del	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,221,021	31,313,425

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)
nssv18142069	0.025	754	29936

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