A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18236058



Internal ID20803098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131225001..132519900hg38UCSC Ensembl
chr9:134100388..135395287hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381294900
hg191294900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6442278
Supporting Variants
Samples
Known GenesC9orf171, FAM78A, MED27, NTNG2, NUP214, POMT1, PPAPDC3, PRRC2B, RAPGEF1, SETX, SNORD62A, SNORD62B, TTF1, UCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18236058
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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