A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180590



Internal ID20747630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29671945..29681351hg38UCSC Ensembl
chr16:29683266..29692672hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg389407
hg199407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503550
Supporting Variants
Samples
Known GenesQPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00161


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