A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037542



Internal ID18780073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12353905..12389934hg38UCSC Ensembl
Innerchr12:12506839..12542868hg19UCSC Ensembl
Innerchr12:12398106..12434135hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3836030
hg1936030
hg1836030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1391n100
Supporting Variantsnssv3505081
Samples
Known GenesLOH12CR1, LOH12CR2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037542
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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