A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533429



Internal ID15156818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78566708..78633453hg38UCSC Ensembl
Innerchr13:79140843..79207588hg19UCSC Ensembl
Innerchr13:78038844..78105589hg18UCSC Ensembl
Innerchr13:78038844..78105589hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3866746
hg1966746
hg1866746
hg1766746
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455994
Supporting Variants
Samples1780862306_A
Known GenesPOU4F1, RNF219, RNF219-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)nssv533429
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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