A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689362



Internal ID15426014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191347603..191355439hg38UCSC Ensembl
Innerchr3:191065392..191073228hg19UCSC Ensembl
Innerchr3:192548086..192555922hg18UCSC Ensembl
Innerchr3:192548094..192555930hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387837
hg197837
hg187837
hg177837
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516440
Supporting Variants
Samples
Known GenesCCDC50
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689362
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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