A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333718



Internal ID20866898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236640212..237806331hg38UCSC Ensembl
chr1:236803512..237969631hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381166120
hg191166120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202479
Samples
Known GenesACTN2, MT1HL1, MTR, RYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333718
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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