A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991764



Internal ID21901107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130867813..130867889hg38UCSC Ensembl
chr3:130586657..130586733hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17546022
Samples
Known GenesATP2C1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991764
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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