A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896319



Internal ID171695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220496639..220496685hg38UCSC Ensembl
chr1:220669981..220670027hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549021
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00281


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