A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439928



Internal ID218453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234763618..234893618hg38UCSC Ensembl
chr2:235672262..235802262hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38130001
hg19130001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927019
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439928
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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