A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435802



Internal ID214434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48461232..48465490hg38UCSC Ensembl
chr2:48688371..48692629hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg384259
hg194259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913301
Samples
Known GenesPPP1R21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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