A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443706



Internal ID222099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62383619..62390100hg38UCSC Ensembl
chr2:62610754..62617235hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg386482
hg196482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913879
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443706
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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