A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565750



Internal ID16006473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99603186..99608654hg38UCSC Ensembl
Innerchr14:100069523..100074991hg19UCSC Ensembl
Innerchr14:99139276..99144744hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385469
hg195469
hg185469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3891n54
Supporting Variantsnssv833028
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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