A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6401197



Internal ID21058750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53961632..54601472hg38UCSC Ensembl
chr5:53257462..53897302hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38639841
hg19639841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214022
Samples
Known GenesARL15, HSPB3, SNX18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6401197
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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