A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221029



Internal ID20788069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75269839..75270445hg38UCSC Ensembl
chr6:75979555..75980161hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407529
Supporting Variants
Samples
Known GenesTMEM30A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221029
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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