A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436455



Internal ID215071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103506660..103507302hg38UCSC Ensembl
chr2:104123118..104123760hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729989
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436455
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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