A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460124



Internal ID15173503
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv494n27
Supporting Variantsnssv536737
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)nsv460124
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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