A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524415



Internal ID300623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2331189..2331371hg38UCSC Ensembl
chr16:2381190..2381372hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706762
Samples
Known GenesABCA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524415
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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