A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029129



Internal ID18771661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10133592..10300387hg38UCSC Ensembl
Innerchr5:10133704..10300499hg19UCSC Ensembl
Innerchr5:10186704..10353499hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38166796
hg19166796
hg18166796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638197
Samples
Known GenesCCT5, CMBL, FAM173B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029129
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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