A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327519



Internal ID20860659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108742501..108749400hg38UCSC Ensembl
chr1:109285123..109292022hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199231
Samples
Known GenesFNDC7, STXBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327519
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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