A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536737



Internal ID15162651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232341294..232429063hg38UCSC Ensembl
Innerchr2:233206004..233293773hg19UCSC Ensembl
Innerchr2:232914248..233002017hg18UCSC Ensembl
Innerchr2:233031509..233119278hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3887770
hg1987770
hg1887770
hg1787770
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460124
Supporting Variants
SamplesHGDP00977
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)nssv536737
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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