A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918605



Internal ID13171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104095683..104095734hg38UCSC Ensembl
chr2:104712141..104712192hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410128
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918605
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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