A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524044



Internal ID300257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53130456..53130508hg38UCSC Ensembl
chr16:53164368..53164420hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705889
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524044
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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