A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457599



Internal ID15170978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84378422..84455324hg38UCSC Ensembl
Innerchr16:84412028..84488930hg19UCSC Ensembl
Innerchr16:82969529..83046431hg18UCSC Ensembl
Innerchr16:82969529..83046431hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3876903
hg1976903
hg1876903
hg1776903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534749
SamplesHGDP00572
Known GenesATP2C2
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)nsv457599
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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