A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216783



Internal ID20783823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108152701..108183000hg38UCSC Ensembl
chr6:108473905..108504204hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3830300
hg1930300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6604596
Supporting Variants
Samples
Known GenesNR2E1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216783
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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