A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416653



Internal ID195874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110483809..110485838hg38UCSC Ensembl
chr1:111026431..111028460hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382030
hg192030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908046
Samples
Known GenesCYMP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416653
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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