A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6477334



Internal ID21134887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49434201..49949300hg38UCSC Ensembl
chr13:50008337..50523436hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38515100
hg19515100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181625
Samples
Known GenesARL11, CAB39L, CTAGE10P, EBPL, KPNA3, PHF11, RCBTB1, SETDB2, SPRYD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6477334
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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