A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914298



Internal ID10282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62780161..62780192hg38UCSC Ensembl
chr2:63007296..63007327hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409005
Supporting Variants
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914298
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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