A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449958



Internal ID228178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201097534..201099240hg38UCSC Ensembl
chr2:201962257..201963963hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381707
hg191707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922881
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449958
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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