A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927904



Internal ID19317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202804077..202804157hg38UCSC Ensembl
chr2:203668800..203668880hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140320
Supporting Variants
Samples
Known GenesICA1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927904
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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