A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868021



Internal ID22642956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69377566..69380244hg38UCSC Ensembl
chr2:69604698..69607376hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382679
hg192679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392138
Samples
Known GenesGFPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868021
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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