A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895480



Internal ID171158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200336445..200336484hg38UCSC Ensembl
chr1:200305573..200305612hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558235
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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