A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539910



Internal ID314774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241657669..241657681hg38UCSC Ensembl
chr2:242597084..242597096hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928823
Samples
Known GenesATG4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539910
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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