A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17029793



Internal ID87569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138139536..138259600hg38UCSC Ensembl
chr9:141033988..141150050hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38120065
hg19116063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141416
Supporting Variants
Samples
Known GenesFAM157B, TUBBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17029793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.087065


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