A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905887



Internal ID4728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86975699..86975750hg38UCSC Ensembl
chr1:87441382..87441433hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559343
Supporting Variants
Samples
Known GenesHS2ST1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905887
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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