A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905130



Internal ID4236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78141369..78141369hg38UCSC Ensembl
chr1:78607053..78607053hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557872
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.312842


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