A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049050



Internal ID18791581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66592552..66656921hg38UCSC Ensembl
Innerchr14:67059270..67123639hg19UCSC Ensembl
Innerchr14:66129023..66193392hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3864370
hg1964370
hg1864370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1928n100
Supporting Variantsnssv3531099, nssv3531100, nssv3713517
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)nsv1049050
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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