A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010454



Internal ID18752985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197821762..197975418hg38UCSC Ensembl
Innerchr3:197548633..197702289hg19UCSC Ensembl
Innerchr3:199033030..199186686hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38153657
hg19153657
hg18153657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5044n100
Supporting Variantsnssv3737882
Samples
Known GenesIQCG, LMLN, LRCH3, RPL35A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010454
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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