A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517808



Internal ID15098415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2269008..3111255hg38UCSC Ensembl
Innerchr8:2214787..2968777hg19UCSC Ensembl
Innerchr8:2202194..2956184hg18UCSC Ensembl
Innerchr8:2202194..2956184hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38842248
hg19753991
hg18753991
hg17753991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694167
Samples
Known GenesCSMD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517808
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer