A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502731



Internal ID279586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66552416..66562727hg38UCSC Ensembl
chr11:66319887..66330198hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3810312
hg1910312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046200
Samples
Known GenesACTN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502731
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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