A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438031



Internal ID216603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186820554..186833661hg38UCSC Ensembl
chr2:187685281..187698388hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3813108
hg1913108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923422
Samples
Known GenesZSWIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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