A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381122



Internal ID22324263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111693308..111693308hg38UCSC Ensembl
chr13:112345655..112345655hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg389004
hg199004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555070
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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