A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393987



Internal ID22311411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43746813..43747071hg38UCSC Ensembl
chr19:44250965..44251223hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198545
Supporting Variants
SamplesNA19240
Known GenesSMG9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14393987
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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