A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467294



Internal ID245113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78813976..78816047hg38UCSC Ensembl
chr5:78109799..78111870hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966931
Samples
Known GenesARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467294
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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