A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983102



Internal ID21892445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235622626..235665381hg38UCSC Ensembl
chr1:235785926..235828681hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3842756
hg1942756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537500
Samples
Known GenesGNG4, LYST
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983102
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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