A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417828



Internal ID197016
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 StatusM
Merged Variants
Supporting Variantsnssv16889291
Samples
Known GenesNGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417828
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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