A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056718



Internal ID18799249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18410504..18662110hg38UCSC Ensembl
Innerchr17:18313818..18565423hg19UCSC Ensembl
Innerchr17:18254543..18506148hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38251607
hg19251606
hg18251606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3111n100
Supporting Variantsnssv3560489
Samples
Known GenesCCDC144B, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, TBC1D28, USP32P2, ZNF286B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056718
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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