A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416914



Internal ID196122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116702939..116703088hg38UCSC Ensembl
chr1:117245561..117245710hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889934
Samples
Known GenesC1orf137
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416914
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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