A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17573559



Internal ID21765602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30092885..30103621hg38UCSC Ensembl
chr8:29950401..29961137hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3810737
hg1910737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6011718
Supporting Variants
Samples
Known GenesLEPROTL1, MIR548O2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17573559
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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