A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042117



Internal ID19131336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66778169..66863655hg38UCSC Ensembl
Innerchr12:67171949..67257435hg19UCSC Ensembl
Innerchr12:65458216..65543702hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3885487
hg1985487
hg1885487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1522n100
Supporting Variantsnssv3524595, nssv3524596
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)nsv1042117
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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