A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892236



Internal ID169013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171395310..171401567hg38UCSC Ensembl
chr1:171364449..171370706hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg386258
hg196258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420176
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892236
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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