A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456398



Internal ID234467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173003167..173011650hg38UCSC Ensembl
chr5:172430170..172438653hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388484
hg198484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735464
Samples
Known GenesATP6V0E1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456398
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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