A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330446



Internal ID20863603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236398540..236555370hg38UCSC Ensembl
chr1:236561840..236718670hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38156831
hg19156831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202473
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330446
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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