A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444056



Internal ID222438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129135312..129135734hg38UCSC Ensembl
chr3:128854155..128854577hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939125
Samples
Known GenesISY1, ISY1-RAB43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444056
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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