A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536765



Internal ID15506154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240629912..240654527hg38UCSC Ensembl
Innerchr2:241569329..241593944hg19UCSC Ensembl
Innerchr2:241218002..241242617hg18UCSC Ensembl
Innerchr2:241289319..241313934hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3824616
hg1924616
hg1824616
hg1724616
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460159
Supporting Variants
SamplesHGDP00407
Known GenesGPR35
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)nssv536765
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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