A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460123



Internal ID15173502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232340180..232438423hg38UCSC Ensembl
Innerchr2:233204890..233303133hg19UCSC Ensembl
Innerchr2:232913134..233011377hg18UCSC Ensembl
Innerchr2:233030395..233128638hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898244
hg1998244
hg1898244
hg1798244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv493n27
Supporting Variantsnssv536736
Samples1798860047_A
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)nsv460123
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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