A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473745



Internal ID251428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:100041750..100088727hg38UCSC Ensembl
chr6:100489626..100536603hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3846978
hg1946978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986987
Samples
Known GenesMCHR2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473745
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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