A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902465



Internal ID2455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26460535..26460731hg38UCSC Ensembl
chr1:26787026..26787222hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431505
Supporting Variants
Samples
Known GenesDHDDS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902465
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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