A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917318



Internal ID12299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85067308..85069220hg38UCSC Ensembl
chr2:85294431..85296343hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381913
hg191913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441784
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917318
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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