A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228336



Internal ID22370555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40758933..40759325hg38UCSC Ensembl
chr19:41264838..41265230hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286837
SamplesNA19238
Known GenesSNRPA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228336
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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