A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917068



Internal ID12120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103031467..103031500hg38UCSC Ensembl
chr2:103647925..103647958hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546338
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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