A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443123



Internal ID22239289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77174910..77174910hg38UCSC Ensembl
chr13:77749045..77749045hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551837
Supporting Variants
SamplesHG00733
Known GenesMYCBP2
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)nssv14443123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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