A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047523



Internal ID19136742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37593912..37999846hg38UCSC Ensembl
Innerchr12:37987714..38393648hg19UCSC Ensembl
Innerchr12:36273981..36679915hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38405935
hg19405935
hg18405935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1470n100
Supporting Variantsnssv3522886, nssv3522887
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047523
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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