A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466067



Internal ID243916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81239573..81240485hg38UCSC Ensembl
chr5:80535392..80536304hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38913
hg19913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968531
Samples
Known GenesCKMT2, CKMT2-AS1, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466067
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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