A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695058



Internal ID15085024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66466552..66726354hg38UCSC Ensembl
Innerchr11:66234023..66493825hg19UCSC Ensembl
Innerchr11:65990599..66250401hg18UCSC Ensembl
Innerchr11:65990599..66250401hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38259803
hg19259803
hg18259803
hg17259803
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522277
Supporting Variants
Samples
Known GenesACTN3, BBS1, CCDC87, CCS, CTSF, DPP3, PELI3, RBM14, RBM14-RBM4, RBM4, RBM4B, SPTBN2, ZDHHC24
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695058
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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