A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700337



Internal ID15090303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100141023..100171898hg38UCSC Ensembl
Innerchr14:100607360..100638235hg19UCSC Ensembl
Innerchr14:99677113..99707988hg18UCSC Ensembl
Innerchr14:99677113..99707988hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3830876
hg1930876
hg1830876
hg1730876
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524413
Supporting Variants
Samples
Known GenesDEGS2, EVL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700337
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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