A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3687464



Internal ID18639059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47964619..48012268hg38UCSC Ensembl
Innerchr8:48877179..48924828hg19UCSC Ensembl
Innerchr8:49039732..49087381hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3847650
hg1947650
hg1847650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032750
Supporting Variants
Samples
Known GenesMCM4, UBE2V2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3687464
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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