A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565746



Internal ID16006469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99603083..99604555hg38UCSC Ensembl
Innerchr14:100069420..100070892hg19UCSC Ensembl
Innerchr14:99139173..99140645hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3889n54
Supporting Variantsnssv833018, nssv833014, nssv833017, nssv833012, nssv833008, nssv833016, nssv833013, nssv833010, nssv833011, nssv833015, nssv833009, nssv833019
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565746
Frequency
Sample Size17421
Observed Gain10
Observed Loss2
Observed Complex0
Frequencyn/a


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