A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3503500



Internal ID18801781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:13335658..13367409hg38UCSC Ensembl
Innerchr12:13488592..13520343hg19UCSC Ensembl
Innerchr12:13379859..13411610hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3831752
hg1931752
hg1831752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035163
Supporting Variants
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)nssv3503500
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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