A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3503523



Internal ID18455118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30940298..30992791hg38UCSC Ensembl
Innerchr12:31093232..31145726hg19UCSC Ensembl
Innerchr12:30984499..31036993hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3852494
hg1952495
hg1852495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035182
Supporting Variants
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3503523
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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