A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533309



Internal ID15507501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23422058..23453495hg38UCSC Ensembl
Innerchr13:23996197..24027634hg19UCSC Ensembl
Innerchr13:22894197..22925634hg18UCSC Ensembl
Innerchr13:22894197..22925634hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3831438
hg1931438
hg1831438
hg1731438
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455840
Supporting Variants
SamplesHGDP00670
Known GenesSACS, SACS-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)nssv533309
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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