A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535341



Internal ID15165179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79523465..79584191hg38UCSC Ensembl
Innerchr2:79750591..79811317hg19UCSC Ensembl
Innerchr2:79604099..79664825hg18UCSC Ensembl
Innerchr2:79662246..79722972hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3860727
hg1960727
hg1860727
hg1760727
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458407
Supporting Variants
SamplesNINDS_160
Known GenesCTNNA2
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)nssv535341
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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