A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393545



Internal ID22309815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38131783..38132756hg38UCSC Ensembl
chr19:38622423..38623396hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg38974
hg19974
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198983
Supporting Variants
SamplesNA19240
Known GenesSIPA1L3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14393545
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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