A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507679



Internal ID284392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87532318..87558402hg38UCSC Ensembl
chr13:88184573..88210657hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3826085
hg1926085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691012
Samples
Known GenesMIR4500HG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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