A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17626340



Internal ID21818387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12760040..12766609hg38UCSC Ensembl
chr19:12870854..12877423hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386570
hg196570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6045430
Supporting Variants
Samples
Known GenesHOOK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17626340
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