A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044139



Internal ID19133358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115722735..115734563hg38UCSC Ensembl
Innerchr12:116160540..116172368hg19UCSC Ensembl
Innerchr12:114644923..114656751hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3811829
hg1911829
hg1811829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1559n100
Supporting Variantsnssv3524956
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)nsv1044139
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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