A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534445



Internal ID15161444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44931099..44967150hg38UCSC Ensembl
Innerchr2:45158238..45194289hg19UCSC Ensembl
Innerchr2:45011742..45047793hg18UCSC Ensembl
Innerchr2:45069889..45105940hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3836052
hg1936052
hg1836052
hg1736052
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457207
Supporting Variants
SamplesHGDP00774
Known GenesSIX3, SIX3-AS1
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)nssv534445
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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