A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059504



Internal ID18802035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20318799..20677708hg38UCSC Ensembl
Innerchr17:20222112..20581021hg19UCSC Ensembl
Innerchr17:20162704..20521613hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38358910
hg19358910
hg18358910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560909
Samples
Known GenesCCDC144CP, CDRT15L2, KRT16P3, LGALS9B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059504
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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