A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523470



Internal ID15450763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:65893938..66152241hg38UCSC Ensembl
Innerchr17:63890056..64148359hg19UCSC Ensembl
Innerchr17:61320518..61578821hg18UCSC Ensembl
Innerchr17:61320518..61578821hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38258304
hg19258304
hg18258304
hg17258304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699229
Samples
Known GenesCEP112
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523470
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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