A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215549



Internal ID20782589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130361301..130369100hg38UCSC Ensembl
chr6:130682446..130690245hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6615971
Supporting Variants
Samples
Known GenesSAMD3, TMEM200A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215549
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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