A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537251



Internal ID15160075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20567472..20592419hg38UCSC Ensembl
Innerchr1:20893965..20918912hg19UCSC Ensembl
Innerchr1:20766552..20791499hg18UCSC Ensembl
Innerchr1:20639271..20664218hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3824948
hg1924948
hg1824948
hg1724948
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460729
Supporting Variants
SamplesHGDP00552
Known GenesCDA
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)nssv537251
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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