A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916040



Internal ID11407
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 StatusS
Merged Variantsnsv5443269
Supporting Variants
Samples
Known GenesOR7E91P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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