A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456422



Internal ID15169801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99522709..99574045hg38UCSC Ensembl
Innerchr14:99989046..100040382hg19UCSC Ensembl
Innerchr14:99058799..99110135hg18UCSC Ensembl
Innerchr14:99058799..99110135hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3851337
hg1951337
hg1851337
hg1751337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533747
SamplesHGDP00706
Known GenesCCDC85C
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)nsv456422
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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