A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565744



Internal ID16006467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99603083..99603829hg38UCSC Ensembl
Innerchr14:100069420..100070166hg19UCSC Ensembl
Innerchr14:99139173..99139919hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38747
hg19747
hg18747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3888n54
Supporting Variantsnssv833000, nssv833001, nssv833002
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565744
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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