A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216544



Internal ID20783584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105120201..105207400hg38UCSC Ensembl
chr6:105568076..105655275hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3887200
hg1987200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6613420
Supporting Variants
Samples
Known GenesBVES, BVES-AS1, POPDC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216544
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00089


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