A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513637



Internal ID290156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100207148..100240779hg38UCSC Ensembl
chr12:100600926..100634557hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3833632
hg1933632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690304
Samples
Known GenesACTR6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513637
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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