A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565752



Internal ID16006475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99603237..99604504hg38UCSC Ensembl
Innerchr14:100069574..100070841hg19UCSC Ensembl
Innerchr14:99139327..99140594hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381268
hg191268
hg181268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3890n54
Supporting Variantsnssv833030, nssv833031
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565752
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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