A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443269



Internal ID221670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71009619..71032300hg38UCSC Ensembl
chr2:71236749..71259430hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3822682
hg1922682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916040
Samples
Known GenesOR7E91P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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