A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533430



Internal ID15157171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78566708..78642283hg38UCSC Ensembl
Innerchr13:79140843..79216418hg19UCSC Ensembl
Innerchr13:78038844..78114419hg18UCSC Ensembl
Innerchr13:78038844..78114419hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3875576
hg1975576
hg1875576
hg1775576
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455995
Supporting Variants
Samples1780862444_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)nssv533430
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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