A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452103



Internal ID230265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84962212..84967461hg38UCSC Ensembl
chr2:85189335..85194584hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg385250
hg195250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917307
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452103
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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