A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892492



Internal ID169184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10991233..10994550hg38UCSC Ensembl
chr1:11051290..11054607hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383318
hg193318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422971
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892492
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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