A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565741



Internal ID16006464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99602384..99604555hg38UCSC Ensembl
Innerchr14:100068721..100070892hg19UCSC Ensembl
Innerchr14:99138474..99140645hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382172
hg192172
hg182172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv832997, nssv832996
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565741
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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