A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526380



Internal ID18824661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131792143..131871863hg38UCSC Ensembl
Innerchr12:132276688..132356408hg19UCSC Ensembl
Innerchr12:130842641..130922361hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3879721
hg1979721
hg1879721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1052544
Supporting Variants
Samples
Known GenesMMP17, SFSWAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526380
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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