A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527869



Internal ID303949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55567360..55567410hg38UCSC Ensembl
chr16:55601272..55601322hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705978
Samples
Known GenesCAPNS2, LPCAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527869
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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