A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446903



Internal ID22224430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:181051..181051hg38UCSC Ensembl
chr18:181051..181051hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551455
Supporting Variants
SamplesHG00733
Known GenesUSP14
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)nssv14446903
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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