A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000793



Internal ID18743324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:84971301..85002688hg38UCSC Ensembl
Innerchr3:85020452..85051839hg19UCSC Ensembl
Innerchr3:85103142..85134529hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3831388
hg1931388
hg1831388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733768
Samples
Known GenesCADM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000793
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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