A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446236



Internal ID22225104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5787217..5787217hg38UCSC Ensembl
chr19:5787228..5787228hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557301
Supporting Variants
SamplesHG00733
Known GenesDUS3L
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)nssv14446236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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