A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445447



Internal ID223794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88127012..88127093hg38UCSC Ensembl
chr2:88426531..88426612hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917386
Samples
Known GenesFABP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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