A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454199



Internal ID232301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94042668..94043171hg38UCSC Ensembl
chr5:93378373..93378876hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970427
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454199
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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