A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437490



Internal ID216076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241260000..241488047hg38UCSC Ensembl
chr2:242199415..242427462hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38228048
hg19228048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927195
Samples
Known GenesFARP2, HDLBP, SEPT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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