A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889291



Internal ID166955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115181665..115561209hg38UCSC Ensembl
chr1:115724286..116103830hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38379545
hg19379545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417828
Supporting Variants
Samples
Known GenesNGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889291
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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