A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432248



Internal ID22175098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30081087..30081158hg38UCSC Ensembl
chr19:30571994..30572065hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204800
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432248
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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