A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508695



Internal ID285382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58881541..58881783hg38UCSC Ensembl
chr12:59275323..59275565hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058839
Samples
Known GenesLRIG3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508695
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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