A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513217



Internal ID289748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125266141..125267083hg38UCSC Ensembl
chr12:125750687..125751629hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690906
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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