A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438649



Internal ID217209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241105095..241184920hg38UCSC Ensembl
chr1:241268395..241348220hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3879826
hg1979826
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898076
Samples
Known GenesMIR3123, RGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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