A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453585



Internal ID231701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74843368..74844175hg38UCSC Ensembl
chr2:75070495..75071302hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916139
Samples
Known GenesHK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453585
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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