A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692934



Internal ID15429586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73250066..73268658hg38UCSC Ensembl
Innerchr14:73716774..73735366hg19UCSC Ensembl
Innerchr14:72786527..72805119hg18UCSC Ensembl
Innerchr14:72786527..72805119hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3818593
hg1918593
hg1818593
hg1718593
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516851
Supporting Variants
Samples
Known GenesPAPLN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692934
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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