A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443649



Internal ID222042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216055507..216058724hg38UCSC Ensembl
chr2:216920230..216923447hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383218
hg193218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924613
Samples
Known GenesPECR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443649
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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