A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906672



Internal ID5232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93006873..93006924hg38UCSC Ensembl
chr1:93472430..93472481hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563682
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906672
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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