A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334780



Internal ID20867969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39716070..39847289hg38UCSC Ensembl
chr1:40181742..40312961hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38131220
hg19131220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203081
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334780
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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