A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040770



Internal ID18783301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66586328..66668429hg38UCSC Ensembl
Innerchr14:67053046..67135147hg19UCSC Ensembl
Innerchr14:66122799..66204900hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3882102
hg1982102
hg1882102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1928n100
Supporting Variantsnssv3531097
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)nsv1040770
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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