A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902818



Internal ID2691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54976725..54977190hg38UCSC Ensembl
chr1:55442398..55442863hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424235
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902818
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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