A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048702



Internal ID19137921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30837878..30861336hg38UCSC Ensembl
Innerchr13:31412015..31435473hg19UCSC Ensembl
Innerchr13:30310015..30333473hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3823459
hg1923459
hg1823459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1624n100
Supporting Variantsnssv3523223
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)nsv1048702
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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