A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533415



Internal ID15161847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26989775..27128411hg38UCSC Ensembl
Innerchr2:27212643..27351279hg19UCSC Ensembl
Innerchr2:27066147..27204783hg18UCSC Ensembl
Innerchr2:27124294..27262930hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38138637
hg19138637
hg18138637
hg17138637
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455974
Supporting Variants
SamplesHGDP00859
Known GenesABHD1, AGBL5, CGREF1, EMILIN1, KHK, MAPRE3, OST4, TMEM214
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)nssv533415
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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