A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434453



Internal ID213128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70031519..70034311hg38UCSC Ensembl
chr2:70258651..70261443hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382793
hg192793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914034
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434453
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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