A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522517



Internal ID15103124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:138455681..138579140hg38UCSC Ensembl
Innerchr3:138174523..138297982hg19UCSC Ensembl
Innerchr3:139657213..139780672hg18UCSC Ensembl
Innerchr3:139657221..139780680hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38123460
hg19123460
hg18123460
hg17123460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705886
Samples
Known GenesCEP70, ESYT3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522517
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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