A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217645



Internal ID22363236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47327623..47396162hg38UCSC Ensembl
chr19:47830880..47899419hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3868540
hg1968540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291566
SamplesNA19238
Known GenesC5AR2, DHX34
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217645
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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