A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699134



Internal ID15435786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22910026..22916597hg38UCSC Ensembl
Innerchr8:22767539..22774110hg19UCSC Ensembl
Innerchr8:22823484..22830055hg18UCSC Ensembl
Innerchr8:22823484..22830055hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386572
hg196572
hg186572
hg176572
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523385
Supporting Variants
Samples
Known GenesPEBP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699134
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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