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dbVar

Database of genomic structural variation

nsv6402860

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:85,913

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: 2744 SVs from 103 studies. See in: genome view

Submitted genomic31,261,410-31,347,322

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6402860	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	31,261,410	31,347,322
nsv6402860	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,229,187	31,315,099

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18142072	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18142072	Submitted genomic		NC_000006.12:g.312 61410_31347322del	GRCh38 (hg38)		NC_000006.12	Chr6	31,261,410	31,347,322
nssv18142072	Remapped	Perfect	NC_000006.11:g.312 29187_31315099del	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,229,187	31,315,099

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)
nssv18142072	0.007	199	29282

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