A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332278



Internal ID20865448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28486426..28604771hg38UCSC Ensembl
chr1:28812938..28931283hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38118346
hg19118346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203539
Samples
Known GenesPHACTR4, RAB42, RCC1, SNHG12, SNHG3, SNORA16A, SNORA44, SNORA61, SNORD99, TAF12, TRNAU1AP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332278
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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