A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896256



Internal ID171649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216008000..216013500hg38UCSC Ensembl
chr1:216181342..216186842hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140324
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896256
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626


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