A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927082



Internal ID18766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238196357..238196442hg38UCSC Ensembl
chr2:239104998..239105083hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450534
Supporting Variants
Samples
Known GenesILKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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