A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682593



Internal ID15419245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73249925..73268658hg38UCSC Ensembl
Innerchr14:73716633..73735366hg19UCSC Ensembl
Innerchr14:72786386..72805119hg18UCSC Ensembl
Innerchr14:72786386..72805119hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3818734
hg1918734
hg1818734
hg1718734
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)nssv682593
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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