A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030482



Internal ID19119701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99973327..100095119hg38UCSC Ensembl
Innerchr8:100985555..101107347hg19UCSC Ensembl
Innerchr8:101054731..101176523hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38121793
hg19121793
hg18121793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757329
Samples
Known GenesRGS22
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030482
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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