A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565745



Internal ID16006468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99603083..99604504hg38UCSC Ensembl
Innerchr14:100069420..100070841hg19UCSC Ensembl
Innerchr14:99139173..99140594hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381422
hg191422
hg181422
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3889n54
Supporting Variantsnssv833005, nssv833006, nssv833004, nssv833007, nssv833003
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565745
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer