A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060483



Internal ID18803014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36098851..36208237hg38UCSC Ensembl
Innerchr17:34426245..34535639hg19UCSC Ensembl
Innerchr17:31450358..31559752hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38109387
hg19109395
hg18109395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3146n100
Supporting Variantsnssv3561128
Samples
Known GenesCCL3L1, CCL3L3, CCL4, TBC1D3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060483
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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