A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425726



Internal ID204683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66988418..66988473hg38UCSC Ensembl
chr1:67454101..67454156hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903982
Samples
Known GenesMIER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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