A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317069



Internal ID20850153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246101000..246394930hg38UCSC Ensembl
chr1:246264302..246558232hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38293931
hg19293931
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv580n223
Supporting Variantsnssv18200691
Samples
Known GenesSMYD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317069
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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