A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434152



Internal ID212835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224419778..224425150hg38UCSC Ensembl
chr2:225284495..225289867hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg385373
hg195373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928379
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434152
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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