A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317040



Internal ID20850123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88929794..88987852hg38UCSC Ensembl
chr1:89395477..89453535hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3858059
hg1958059
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205212
Samples
Known GenesCCBL2, RBMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317040
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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