A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543112



Internal ID317438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186756214..186756229hg38UCSC Ensembl
chr2:187620941..187620956hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923415
Samples
Known GenesFAM171B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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