A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331299



Internal ID20864462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91836709..92111028hg38UCSC Ensembl
chr1:92302266..92576585hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38274320
hg19274320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263n223
Supporting Variantsnssv18203167
Samples
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331299
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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