A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456273



Internal ID15516338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44481683..44537275hg38UCSC Ensembl
Innerchr14:44950886..45006478hg19UCSC Ensembl
Innerchr14:44020636..44076228hg18UCSC Ensembl
Innerchr14:44020636..44076228hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3855593
hg1955593
hg1855593
hg1755593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533622
Samples1780854464_A
Known GenesFSCB
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)nsv456273
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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