A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453035



Internal ID231175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65097022..65097073hg38UCSC Ensembl
chr2:65324156..65324207hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914587
Samples
Known GenesRAB1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453035
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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