A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438918



Internal ID217468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241179069..241197007hg38UCSC Ensembl
chr1:241342369..241360307hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3817939
hg1917939
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898081
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438918
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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