A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703146



Internal ID15093112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100141023..100148698hg38UCSC Ensembl
Innerchr14:100607360..100615035hg19UCSC Ensembl
Innerchr14:99677113..99684788hg18UCSC Ensembl
Innerchr14:99677113..99684788hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg387676
hg197676
hg187676
hg177676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526793
Supporting Variants
Samples
Known GenesDEGS2, EVL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703146
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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