A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17530022



Internal ID21854378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16142768..16142889hg38UCSC Ensembl
chr1:16469263..16469384hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5981429
Supporting Variants
Samples
Known GenesEPHA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17530022
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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