A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065718



Internal ID18808249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36109723..36200713hg38UCSC Ensembl
Innerchr17:34437116..34528113hg19UCSC Ensembl
Innerchr17:31461229..31552226hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3890991
hg1990998
hg1890998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3146n100
Supporting Variantsnssv3561367, nssv3720174, nssv3720179, nssv3720175, nssv3561363, nssv3561364, nssv3720178, nssv3561365, nssv3561366, nssv3720177, nssv3720176
Samples
Known GenesCCL3L1, CCL3L3, TBC1D3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065718
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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