A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438655



Internal ID217215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208260299..208265146hg38UCSC Ensembl
chr2:209125023..209129870hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384848
hg194848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928053
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438655
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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