A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057816



Internal ID18800347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18416536..18626748hg38UCSC Ensembl
Innerchr17:18319850..18530061hg19UCSC Ensembl
Innerchr17:18260575..18470786hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38210213
hg19210212
hg18210212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3111n100
Supporting Variantsnssv3560492
Samples
Known GenesCCDC144B, FAM106A, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057816
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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