A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684016



Internal ID107682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88375176..88422174hg38UCSC Ensembl
chr12:88768953..88815951hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3846999
hg1946999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512016
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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