A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548085



Internal ID22417047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137031735..137031735hg38UCSC Ensembl
chr9:139926187..139926187hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429587
SamplesHG00514
Known GenesC9orf139, FUT7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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