A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462603



Internal ID21120156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130067501..130071300hg38UCSC Ensembl
chr11:129937396..129941195hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186831
Samples
Known GenesAPLP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462603
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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