A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6499231



Internal ID20872449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31326014..31405172hg38UCSC Ensembl
chr16:31337335..31416493hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3879159
hg1979159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184692
Samples
Known GenesITGAD, ITGAM, ITGAX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6499231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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