A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202202



Internal ID22351397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40500081..40500145hg38UCSC Ensembl
chr19:41005988..41006052hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393965
SamplesNA19240
Known GenesSPTBN4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202202
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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