A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220460



Internal ID20787500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73284242..73288701hg38UCSC Ensembl
chr6:73993965..73998424hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg384460
hg194460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413483
Supporting Variants
Samples
Known GenesC6orf147, KHDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220460
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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