A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435706



Internal ID214341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102887964..102888125hg38UCSC Ensembl
chr2:103504423..103504584hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917058
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435706
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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