A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924824



Internal ID17292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210106058..210107403hg38UCSC Ensembl
chr2:210970782..210972127hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446297
Supporting Variants
Samples
Known GenesKANSL1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924824
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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