A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142786



Internal ID341987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75975216..75975290hg38UCSC Ensembl
chr9:78590132..78590206hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17022667
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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