A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456254



Internal ID15169633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43735368..44523056hg38UCSC Ensembl
Innerchr14:44204571..44992259hg19UCSC Ensembl
Innerchr14:43274321..44062009hg18UCSC Ensembl
Innerchr14:43274321..44062009hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38787689
hg19787689
hg18787689
hg17787689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533608
SamplesHGDP00954
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)nsv456254
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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