A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218042



Internal ID20785082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46017101..46021900hg38UCSC Ensembl
chr6:45984838..45989637hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414703
Supporting Variants
Samples
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218042
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00097


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