A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434447



Internal ID213122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27433211..27433345hg38UCSC Ensembl
chr2:27656078..27656212hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910325
Samples
Known GenesNRBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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