A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050492



Internal ID19139711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115722735..115735997hg38UCSC Ensembl
Innerchr12:116160540..116173802hg19UCSC Ensembl
Innerchr12:114644923..114658185hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3813263
hg1913263
hg1813263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1559n100
Supporting Variantsnssv3524957
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)nsv1050492
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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