A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060494



Internal ID18803025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36109315..36265379hg38UCSC Ensembl
Innerchr17:34436708..34629684hg19UCSC Ensembl
Innerchr17:31460821..31653797hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38156065
hg19192977
hg18192977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3144n100
Supporting Variantsnssv3561275, nssv3561272, nssv3561277, nssv3561276, nssv3561273, nssv3561278, nssv3561271, nssv3561274
Samples
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060494
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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