A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377290



Internal ID22323802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112037167..112037167hg38UCSC Ensembl
chr13:112691481..112691481hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543385
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377290
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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