A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378276



Internal ID22313055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79151527..79151527hg38UCSC Ensembl
chr17:77147609..77147609hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549019
Supporting Variants
SamplesNA19240
Known GenesRBFOX3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378276
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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