A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447830



Internal ID226121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102244997..102245073hg38UCSC Ensembl
chr2:102861457..102861533hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916896
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447830
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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