A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046627



Internal ID18789158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66592552..66654023hg38UCSC Ensembl
Innerchr14:67059270..67120741hg19UCSC Ensembl
Innerchr14:66129023..66190494hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3861472
hg1961472
hg1861472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1928n100
Supporting Variantsnssv3531098
Samples
Known GenesGPHN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046627
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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