A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280770



Internal ID20489988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63423663..63423899hg38UCSC Ensembl
chr20:62055016..62055252hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4736636
Supporting Variants
Samples
Known GenesKCNQ2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280770
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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