A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398598



Internal ID21056151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67129344..67410879hg38UCSC Ensembl
chr5:66425172..66706707hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38281536
hg19281536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214852
Samples
Known GenesCD180, MAST4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398598
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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