A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429587



Internal ID22171351
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 StatusS
Merged Variantsnsv3548085
Supporting Variants
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)nssv14429587
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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