A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061481



Internal ID19150700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18455620..18634021hg38UCSC Ensembl
Innerchr17:18358934..18537334hg19UCSC Ensembl
Innerchr17:18299659..18478059hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38178402
hg19178401
hg18178401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3115n100
Supporting Variantsnssv3560532
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061481
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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