A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201617



Internal ID20768658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16888501..16898100hg38UCSC Ensembl
chr1:17214996..17224595hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg389600
hg199600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323788
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201617
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.47922


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