A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063451



Internal ID18805982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59570567..59685102hg38UCSC Ensembl
Innerchr17:57647928..57762463hg19UCSC Ensembl
Innerchr17:55002710..55117245hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38114536
hg19114536
hg18114536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3272n100
Supporting Variantsnssv3567717
Samples
Known GenesCLTC, DHX40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063451
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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