A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065475



Internal ID19154694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452066..18647534hg38UCSC Ensembl
Innerchr17:18355380..18550847hg19UCSC Ensembl
Innerchr17:18296105..18491572hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38195469
hg19195468
hg18195468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3115n100
Supporting Variantsnssv3560531
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, TBC1D28, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065475
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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