A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446278



Internal ID224603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127382794..127384874hg38UCSC Ensembl
chr2:128140370..128142450hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382081
hg192081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917754
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446278
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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