A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502467



Internal ID279333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48757006..48760812hg38UCSC Ensembl
chr12:49150789..49154595hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383807
hg193807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058192
Samples
Known GenesLINC00935
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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