A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498419



Internal ID275409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74195696..74201000hg38UCSC Ensembl
chr11:73906741..73912045hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg385305
hg195305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048379
Samples
Known GenesPPME1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498419
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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