A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330182



Internal ID20863337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247443930..247471256hg38UCSC Ensembl
chr1:247607232..247634558hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3827327
hg1927327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201296
Samples
Known GenesNLRP3, OR2B11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330182
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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