A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474052



Internal ID251723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70065433..70094809hg38UCSC Ensembl
chr9:72680349..72709725hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3829377
hg1929377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023275
Samples
Known GenesMAMDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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