A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533436



Internal ID15164174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29354539..29373622hg38UCSC Ensembl
Innerchr2:29577405..29596488hg19UCSC Ensembl
Innerchr2:29430909..29449992hg18UCSC Ensembl
Innerchr2:29489056..29508139hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3819084
hg1919084
hg1819084
hg1719084
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456008
Supporting Variants
SamplesHGDP01310
Known GenesALK
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)nssv533436
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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