A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217427



Internal ID20784467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46645801..46661500hg38UCSC Ensembl
chr6:46613538..46629237hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3815700
hg1915700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414397
Supporting Variants
Samples
Known GenesCYP39A1, SLC25A27
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217427
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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