A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17031345



Internal ID88596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136833536..136927536hg38UCSC Ensembl
chr9:139727988..139821988hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3894001
hg1994001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141476
Supporting Variants
Samples
Known GenesC9orf172, EDF1, MAMDC4, MIR4479, PHPT1, RABL6, TRAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17031345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.021


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