A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465317



Internal ID243181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112057402..112192469hg38UCSC Ensembl
chr5:111393099..111528166hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38135068
hg19135068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971673
Samples
Known GenesEPB41L4A, EPB41L4A-AS1, SNORA13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465317
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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