A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495312



Internal ID272431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56692822..56693473hg38UCSC Ensembl
chr12:57086606..57087257hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057683
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495312
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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