A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564957



Internal ID16005680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66852160..66889344hg38UCSC Ensembl
Innerchr14:67318878..67356061hg19UCSC Ensembl
Innerchr14:66388631..66425814hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3837185
hg1937184
hg1837184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv828622
Samples
Known GenesGPHN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564957
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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