A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533347



Internal ID15501977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53610102..53640959hg38UCSC Ensembl
Innerchr13:54184237..54215094hg19UCSC Ensembl
Innerchr13:53082238..53113095hg18UCSC Ensembl
Innerchr13:53082238..53113095hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3830858
hg1930858
hg1830858
hg1730858
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455890
Supporting Variants
Samples1780854061_A
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)nssv533347
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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