A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435382



Internal ID214032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197028625..197031167hg38UCSC Ensembl
chr2:197893349..197895891hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923613
Samples
Known GenesANKRD44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435382
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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