A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552053



Internal ID325464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44980046..44980059hg38UCSC Ensembl
chr3:45021538..45021551hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933676
Samples
Known GenesEXOSC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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