A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509458



Internal ID286109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117767612..117770854hg38UCSC Ensembl
chr12:118205417..118208659hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383243
hg193243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684768
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509458
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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