A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487169



Internal ID264513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68676213..68721185hg38UCSC Ensembl
chr9:71291129..71336101hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3844973
hg1944973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023176
Samples
Known GenesPIP5K1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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