A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527751



Internal ID15455044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124325975..124418789hg38UCSC Ensembl
Innerchr8:125338216..125431030hg19UCSC Ensembl
Innerchr8:125407397..125500211hg18UCSC Ensembl
Innerchr8:125407397..125500211hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3892815
hg1992815
hg1892815
hg1792815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704237
Samples
Known GenesTMEM65
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527751
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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