A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3525581



Internal ID18477176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110490706..110718233hg38UCSC Ensembl
Innerchr13:111143053..111370580hg19UCSC Ensembl
Innerchr13:109941054..110168581hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38227528
hg19227528
hg18227528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044234
Supporting Variants
Samples
Known GenesCARKD, CARS2, COL4A2, COL4A2-AS1, ING1, RAB20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3525581
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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