A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926272



Internal ID18247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:242010586..242144850hg38UCSC Ensembl
chr2:242952737..243087001hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38134265
hg19134265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448708
Supporting Variants
Samples
Known GenesLOC728323
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023794


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