A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918408



Internal ID13041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121399999..121400137hg38UCSC Ensembl
chr2:122157575..122157713hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452310
Supporting Variants
Samples
Known GenesCLASP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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