A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455991



Internal ID15516056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78295146..78331140hg38UCSC Ensembl
Innerchr13:78869281..78905275hg19UCSC Ensembl
Innerchr13:77767282..77803276hg18UCSC Ensembl
Innerchr13:77767282..77803276hg17UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3835995
hg1935995
hg1835995
hg1735995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv233n27
Supporting Variantsnssv533426
SamplesHGDP01312
Known GenesRNF219-AS1
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)nsv455991
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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