A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917350



Internal ID12316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85486090..85494824hg38UCSC Ensembl
chr2:85713213..85721947hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg388735
hg198735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452377
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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