A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506897



Internal ID283630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59254229..59361153hg38UCSC Ensembl
chr12:59648010..59754934hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38106925
hg19106925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058875
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506897
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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