A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6365579



Internal ID21023132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45506627..45604642hg38UCSC Ensembl
chr3:45548119..45646134hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3898016
hg1998016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209276
Samples
Known GenesLARS2, LARS2-AS1, LIMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6365579
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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