A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064673



Internal ID18807204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11543..249310hg38UCSC Ensembl
Innerchr18:11543..249310hg19UCSC Ensembl
Innerchr18:1543..239310hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38237768
hg19237768
hg18237768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3301n100
Supporting Variantsnssv3569023
Samples
Known GenesMIR8078, ROCK1P1, THOC1, USP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064673
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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