A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986552



Internal ID21895895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160099087..160140359hg38UCSC Ensembl
chr2:160955598..160996870hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3841273
hg1941273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518223
Samples
Known GenesITGB6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986552
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer