A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435253



Internal ID213905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9916805..9917029hg38UCSC Ensembl
chr2:10056934..10057158hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909951
Samples
Known GenesTAF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435253
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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