A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435659



Internal ID214296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27431880..27432910hg38UCSC Ensembl
chr2:27654747..27655777hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910324
Samples
Known GenesNRBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435659
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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