A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509241



Internal ID285903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112963665..112963983hg38UCSC Ensembl
chr12:113401470..113401788hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690699
Samples
Known GenesOAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509241
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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