A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326458



Internal ID20859593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205110148..205152306hg38UCSC Ensembl
chr1:205079276..205121434hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3842159
hg1942159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201859
Samples
Known GenesDSTYK, RBBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326458
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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