A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454097



Internal ID22248736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16655..16655hg38UCSC Ensembl
chr7:16655..16655hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537378
Supporting Variants
SamplesHG00733
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)nssv14454097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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