A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443984



Internal ID222366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162208787..162284499hg38UCSC Ensembl
chr2:163065297..163141009hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3875713
hg1975713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921390
Samples
Known GenesFAP, IFIH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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