A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985981



Internal ID21895324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127966343..127968527hg38UCSC Ensembl
chr2:128723917..128726101hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382185
hg192185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520015
Samples
Known GenesSAP130
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985981
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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