A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052677



Internal ID18795208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66540696..66656921hg38UCSC Ensembl
Innerchr14:67007414..67123639hg19UCSC Ensembl
Innerchr14:66077167..66193392hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38116226
hg19116226
hg18116226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713510
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)nsv1052677
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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