A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517939



Internal ID15098546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243213455..243359604hg38UCSC Ensembl
Innerchr1:243376757..243522906hg19UCSC Ensembl
Innerchr1:241443380..241589529hg18UCSC Ensembl
Innerchr1:239702798..239848947hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38146150
hg19146150
hg18146150
hg17146150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695351
Samples
Known GenesCEP170, MIR4677, SDCCAG8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517939
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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