A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511631



Internal ID288205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75533103..75545730hg38UCSC Ensembl
chr13:76107239..76119866hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3812628
hg1912628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691833
Samples
Known GenesCOMMD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511631
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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