A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543530



Internal ID317771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66950685..66950709hg38UCSC Ensembl
chr1:67416368..67416392hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903978
Samples
Known GenesMIER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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