A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892431



Internal ID169150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161753756..161753815hg38UCSC Ensembl
chr1:161723546..161723605hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425338
Supporting Variants
Samples
Known GenesDUSP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892431
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.020762


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