A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697784



Internal ID15087750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:14135751..14154182hg38UCSC Ensembl
Innerchr3:14177251..14195682hg19UCSC Ensembl
Innerchr3:14152252..14170683hg18UCSC Ensembl
Innerchr3:14152252..14170683hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3818432
hg1918432
hg1818432
hg1718432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521096
Supporting Variants
Samples
Known GenesTMEM43, XPC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697784
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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