A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185393



Internal ID20752434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75456513..75508485hg38UCSC Ensembl
chr16:75490411..75542383hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3851973
hg1951973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6502968
Supporting Variants
Samples
Known GenesCHST6, TMEM170A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185393
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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