A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010832



Internal ID74855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47991200..47991204hg38UCSC Ensembl
chr8:48903760..48903764hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555282
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010832
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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