A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030122



Internal ID19119341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75291307..75321984hg38UCSC Ensembl
Innerchr8:76203542..76234219hg19UCSC Ensembl
Innerchr8:76366097..76396774hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3830678
hg1930678
hg1830678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7242n100
Supporting Variantsnssv3689576
Samples
Known GenesCASC9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030122
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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