A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047558



Internal ID18790089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:21319810..21353356hg38UCSC Ensembl
Innerchr13:21893949..21927495hg19UCSC Ensembl
Innerchr13:20791949..20825495hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3833547
hg1933547
hg1833547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1613n100
Supporting Variantsnssv3523136
Samples
Known GenesLINC00539, MIPEPP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047558
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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