A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455869



Internal ID15515934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42786462..42884423hg38UCSC Ensembl
Innerchr13:43360598..43458559hg19UCSC Ensembl
Innerchr13:42258598..42356559hg18UCSC Ensembl
Innerchr13:42258598..42356559hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3897962
hg1997962
hg1897962
hg1797962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533330
SamplesHGDP01374
Known GenesFAM216B
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)nsv455869
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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