A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3483578



Internal ID19071219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232214503..232347331hg38UCSC Ensembl
Innerchr1:232350249..232483077hg19UCSC Ensembl
Innerchr1:230416872..230549700hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38132829
hg19132829
hg18132829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999628
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)nssv3483578
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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