A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456327



Internal ID15516392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:65488799..65586183hg38UCSC Ensembl
Innerchr14:65955517..66052901hg19UCSC Ensembl
Innerchr14:65025270..65122654hg18UCSC Ensembl
Innerchr14:65025270..65122654hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3897385
hg1997385
hg1897385
hg1797385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533668
Samples1780862206_A
Known GenesFUT8
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)nsv456327
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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