A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916170



Internal ID11498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75335796..75335914hg38UCSC Ensembl
chr2:75562922..75563040hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435482
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916170
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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