A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418651



Internal ID197814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117757807..117758017hg38UCSC Ensembl
chr1:118300429..118300639hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16888979
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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