A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530928



Internal ID306896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8838000..8845231hg38UCSC Ensembl
chr16:8931857..8939088hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg387232
hg197232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706868
Samples
Known GenesPMM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530928
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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