A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516960



Internal ID15444253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38936164..38941539hg38UCSC Ensembl
Innerchr8:38793682..38799057hg19UCSC Ensembl
Innerchr8:38912839..38918214hg18UCSC Ensembl
Innerchr8:38912839..38918214hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg385376
hg195376
hg185376
hg175376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663388, nssv679241, nssv688626, nssv684811, nssv656108, nssv682146, nssv690667, nssv689906, nssv667632, nssv657246, nssv670871, nssv660003, nssv674666, nssv663748, nssv653514, nssv672253, nssv656852, nssv659345, nssv672361, nssv686078, nssv673838, nssv667332, nssv661854, nssv693452, nssv688693, nssv662094
Samples
Known GenesPLEKHA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516960
Frequency
Sample Size2026
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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