A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907076



Internal ID5500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100630531..100630582hg38UCSC Ensembl
chr1:101096087..101096138hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557675
Supporting Variants
Samples
Known GenesLOC100128787
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907076
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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