A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456393



Internal ID15169772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91276314..91332346hg38UCSC Ensembl
Innerchr14:91742658..91798690hg19UCSC Ensembl
Innerchr14:90812411..90868443hg18UCSC Ensembl
Innerchr14:90812411..90868443hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3856033
hg1956033
hg1856033
hg1756033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533725
SamplesNINDS_111
Known GenesCCDC88C
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)nsv456393
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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