A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512833



Internal ID289378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57657784..57657988hg38UCSC Ensembl
chr11:57425256..57425460hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046996
Samples
Known GenesCLP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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