A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504724



Internal ID281520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56481579..56481952hg38UCSC Ensembl
chr12:56875363..56875736hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688524
Samples
Known GenesGLS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504724
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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