A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896882



Internal ID172074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230671956..230696654hg38UCSC Ensembl
chr1:230807702..230832400hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3824699
hg1924699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435855
Supporting Variants
Samples
Known GenesCOG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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