A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445450



Internal ID223797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208112323..208124226hg38UCSC Ensembl
chr2:208977047..208988950hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3811904
hg1911904
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928034
Samples
Known GenesCRYGD, LOC100507443
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445450
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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