A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042800



Internal ID18785331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91048538..91080645hg38UCSC Ensembl
Innerchr12:91442315..91474422hg19UCSC Ensembl
Innerchr12:89966446..89998553hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3832108
hg1932108
hg1832108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524822
Samples
Known GenesKERA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042800
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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