A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438749



Internal ID217305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186543610..186618468hg38UCSC Ensembl
chr2:187408337..187483195hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3874859
hg1974859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922778
Samples
Known GenesITGAV
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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