A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320066



Internal ID20853164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239606521..239654683hg38UCSC Ensembl
chr1:239769821..239817983hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3848163
hg1948163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202529
Samples
Known GenesCHRM3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320066
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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