A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564651



Internal ID16005374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43735368..44523056hg38UCSC Ensembl
Innerchr14:44204571..44992259hg19UCSC Ensembl
Innerchr14:43274321..44062009hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38787689
hg19787689
hg18787689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148579
SamplesHGDP00954
Known GenesFSCB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564651
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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