A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565004



Internal ID16005727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69568783..69574646hg38UCSC Ensembl
Innerchr14:70035500..70041363hg19UCSC Ensembl
Innerchr14:69105253..69111116hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg385864
hg195864
hg185864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3743n54
Supporting Variantsnssv828822
Samples
Known GenesCCDC177
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565004
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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