A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208542



Internal ID20775583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16601801..16609300hg38UCSC Ensembl
chr3:16643308..16650807hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6357021
Supporting Variants
Samples
Known GenesDAZL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208542
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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