A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467199



Internal ID245017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64991231..64991424hg38UCSC Ensembl
chr5:64287058..64287251hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965851
Samples
Known GenesCWC27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467199
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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