A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991304



Internal ID21900647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130868246..130868378hg38UCSC Ensembl
chr3:130587090..130587222hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17547918
Samples
Known GenesATP2C1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991304
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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