A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512247



Internal ID288807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1656000..1666000hg38UCSC Ensembl
chr11:1677230..1687230hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040574
Samples
Known GenesFAM99A, MOB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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