A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457394



Internal ID15170773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8698055..8916356hg38UCSC Ensembl
Innerchr16:8791912..9010213hg19UCSC Ensembl
Innerchr16:8699413..8917714hg18UCSC Ensembl
Innerchr16:8699413..8917714hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38218302
hg19218302
hg18218302
hg17218302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534590
Samples1782681277_A
Known GenesABAT, CARHSP1, PMM2, TMEM186, USP7
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457394
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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