A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024060



Internal ID18766593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181148493..181181605hg38UCSC Ensembl
Innerchr5:180575493..180608605hg19UCSC Ensembl
Innerchr5:180508099..180541211hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3833113
hg1933113
hg1833113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5863n100
Supporting Variantsnssv3650351
Samples
Known GenesOR2V2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024060
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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