A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3514480



Internal ID18466075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12353905..12393813hg38UCSC Ensembl
Innerchr12:12506839..12546747hg19UCSC Ensembl
Innerchr12:12398106..12438014hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3839909
hg1939909
hg1839909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1045637
Supporting Variants
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)nssv3514480
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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