A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032750



Internal ID18775284
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 StatusM
Merged Variants
Supporting Variantsnssv3687464
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)nsv1032750
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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