A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477232



Internal ID254821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2021000..2243000hg38UCSC Ensembl
chr8:1969161..2190763hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38222001
hg19221603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007975
Samples
Known GenesMIR7160, MYOM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477232
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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