A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918418



Internal ID13047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121558631..122131082hg38UCSC Ensembl
chr2:122316207..122888658hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38572452
hg19572452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435862
Supporting Variants
Samples
Known GenesCLASP1, NIFK, NIFK-AS1, TSN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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