A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453174



Internal ID231307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122531855..122531976hg38UCSC Ensembl
chr3:122250702..122250823hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939498
Samples
Known GenesPARP9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453174
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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