A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330458



Internal ID20863615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108984462..109187303hg38UCSC Ensembl
chr1:109527084..109729925hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38202842
hg19202842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199235
Samples
Known GenesC1orf194, KIAA1324, SCARNA2, TAF13, TMEM167B, WDR47
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330458
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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