A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917558



Internal ID12452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98866541..98866541hg38UCSC Ensembl
chr2:99483004..99483004hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541150
Supporting Variants
Samples
Known GenesKIAA1211L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917558
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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