A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027254



Internal ID85889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127922552..127928552hg38UCSC Ensembl
chr9:130684831..130690831hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141683
Supporting Variants
Samples
Known GenesPIP5KL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.021643


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