A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376537



Internal ID22322028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:37982521..37982521hg38UCSC Ensembl
chr15:38274722..38274722hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550229
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)nssv14376537
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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