A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042232



Internal ID18784763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110629776..110696128hg38UCSC Ensembl
Innerchr13:111282123..111348475hg19UCSC Ensembl
Innerchr13:110080124..110146476hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3866353
hg1966353
hg1866353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525583
Samples
Known GenesCARKD, CARS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042232
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