A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902171



Internal ID2243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45720361..46036330hg38UCSC Ensembl
chr1:46186033..46502002hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38315970
hg19315970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422735
Supporting Variants
Samples
Known GenesIPP, MAST2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902171
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