A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528287



Internal ID15455580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124558559..124559416hg38UCSC Ensembl
Innerchr8:125570800..125571657hg19UCSC Ensembl
Innerchr8:125639981..125640838hg18UCSC Ensembl
Innerchr8:125639981..125640838hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38858
hg19858
hg18858
hg17858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704859
Samples
Known GenesMTSS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528287
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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