A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046763



Internal ID18789294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66586328..66656921hg38UCSC Ensembl
Innerchr14:67053046..67123639hg19UCSC Ensembl
Innerchr14:66122799..66193392hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3870594
hg1970594
hg1870594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1928n100
Supporting Variantsnssv3713513, nssv3531093, nssv3531094, nssv3713512, nssv3713514, nssv3531096, nssv3713515, nssv3713511, nssv3531095, nssv3713516
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)nsv1046763
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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