A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052243



Internal ID18794774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12359792..12388935hg38UCSC Ensembl
Innerchr12:12512726..12541869hg19UCSC Ensembl
Innerchr12:12403993..12433136hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3829144
hg1929144
hg1829144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1391n100
Supporting Variantsnssv3519077
Samples
Known GenesLOH12CR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052243
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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