A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892505



Internal ID169193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11041601..11042363hg38UCSC Ensembl
chr1:11101658..11102420hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414802
Supporting Variants
Samples
Known GenesMASP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892505
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.45192


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