A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3511428



Internal ID18463023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:150039..201405hg38UCSC Ensembl
Innerchr12:259205..310571hg19UCSC Ensembl
Innerchr12:129466..180832hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3851367
hg1951367
hg1851367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044922
Supporting Variants
Samples
Known GenesIQSEC3, SLC6A12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3511428
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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