A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496072



Internal ID273158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121503731..121505001hg38UCSC Ensembl
chr12:121941534..121942804hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684986
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496072
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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