A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911039



Internal ID8130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26581328..26593107hg38UCSC Ensembl
chr2:26804196..26815975hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3811780
hg1911780
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448436
Supporting Variants
Samples
Known GenesCIB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911039
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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