A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147458



Internal ID346639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70239244..70245569hg38UCSC Ensembl
chr9:72854160..72860485hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg386326
hg196326
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023293
Samples
Known GenesSMC5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147458
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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