A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321893



Internal ID20855002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235142440..235153088hg38UCSC Ensembl
chr1:235305755..235316403hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3810649
hg1910649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202413
Samples
Known GenesRBM34
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321893
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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