A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434614



Internal ID22492484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85116147..85116291hg38UCSC Ensembl
chr8:86028382..86028526hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916710
Supporting Variants
Samples
Known GenesLRRCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434614
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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