A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497652



Internal ID274678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61435852..61458485hg38UCSC Ensembl
chr11:61203324..61225957hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3822634
hg1922634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046561
Samples
Known GenesSDHAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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