A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565749



Internal ID16006472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99603186..99604555hg38UCSC Ensembl
Innerchr14:100069523..100070892hg19UCSC Ensembl
Innerchr14:99139276..99140645hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381370
hg191370
hg181370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3890n54
Supporting Variantsnssv833027, nssv833025, nssv833026, nssv833024
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565749
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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