A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533348



Internal ID15510829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54059238..54094377hg38UCSC Ensembl
Innerchr13:54633373..54668512hg19UCSC Ensembl
Innerchr13:53531374..53566513hg18UCSC Ensembl
Innerchr13:53531374..53566513hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3835140
hg1935140
hg1835140
hg1735140
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455891
Supporting Variants
SamplesHGDP01306
Known Genes
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)nssv533348
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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