A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456088



Internal ID15169467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98303535..98556312hg38UCSC Ensembl
Innerchr13:98955789..99208566hg19UCSC Ensembl
Innerchr13:97753790..98006567hg18UCSC Ensembl
Innerchr13:97753790..98006567hg17UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38252778
hg19252778
hg18252778
hg17252778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533493
SamplesHGDP01081
Known GenesFARP1, STK24
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)nsv456088
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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