A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892128



Internal ID22667173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8539910..8539961hg38UCSC Ensembl
chr3:8581596..8581647hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426474
Samples
Known GenesLMCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892128
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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