A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3525583



Internal ID18477178
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 StatusS
Merged Variantsnsv1042232
Supporting Variants
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)nssv3525583
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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