A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412729



Internal ID21070282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109831001..109836100hg38UCSC Ensembl
chr5:109166702..109171801hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213324
Samples
Known GenesMAN2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412729
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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