A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455882



Internal ID15169261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48957415..49105021hg38UCSC Ensembl
Innerchr13:49531551..49679157hg19UCSC Ensembl
Innerchr13:48429552..48577158hg18UCSC Ensembl
Innerchr13:48429552..48577158hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38147607
hg19147607
hg18147607
hg17147607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533342
SamplesHGDP00682
Known GenesFNDC3A
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)nsv455882
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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