A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143973



Internal ID343175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47992120..48108479hg38UCSC Ensembl
chr12:48385903..48502262hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38116360
hg19116360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056858
Samples
Known GenesCOL2A1, PFKM, SENP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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