A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482993



Internal ID15235467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132994656..133137835hg38UCSC Ensembl
Innerchr8:134006901..134150079hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38143180
hg19143179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996147
Samples
Known GenesMIR7848, SLA, TG
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv482993
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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