A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052147



Internal ID18794678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110113288..110265435hg38UCSC Ensembl
Innerchr13:110765635..110917782hg19UCSC Ensembl
Innerchr13:109563636..109715783hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38152148
hg19152148
hg18152148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713307
Samples
Known GenesCOL4A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052147
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