A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918348



Internal ID12996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117921983..117922034hg38UCSC Ensembl
chr2:118679559..118679610hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411635
Supporting Variants
Samples
Known GenesCCDC93
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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