A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703516



Internal ID15093482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100106617..100179544hg38UCSC Ensembl
Innerchr14:100572954..100645881hg19UCSC Ensembl
Innerchr14:99642707..99715634hg18UCSC Ensembl
Innerchr14:99642707..99715634hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3872928
hg1972928
hg1872928
hg1772928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527130
Supporting Variants
Samples
Known GenesDEGS2, EVL, MIR342
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703516
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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