A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400401



Internal ID21057954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115835301..115846400hg38UCSC Ensembl
chr5:115170998..115182097hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3811100
hg1911100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212469
Samples
Known GenesAP3S1, ATG12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400401
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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