A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533336



Internal ID15155357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46044155..46739284hg38UCSC Ensembl
Innerchr13:46618290..47313419hg19UCSC Ensembl
Innerchr13:45516291..46211420hg18UCSC Ensembl
Innerchr13:45516291..46211420hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38695130
hg19695130
hg18695130
hg17695130
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455876
Supporting Variants
Samples1780854101_A
Known GenesCPB2, CPB2-AS1, KIAA0226L, LCP1, LINC00563, LRCH1, LRRC63, ZC3H13
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)nssv533336
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer