A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549869



Internal ID323483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175260532..175260570hg38UCSC Ensembl
chr2:176125260..176125298hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922342
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549869
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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