A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543508



Internal ID22412562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50678047..50678047hg38UCSC Ensembl
chr19:51181304..51181304hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394053
SamplesNA19240
Known GenesSHANK1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543508
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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