A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227019



Internal ID22369639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44965892..44974463hg38UCSC Ensembl
Outerchr19:45469149..45477720hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg388572
hg198572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262781, nssv14262782
SamplesNA19239, NA19240
Known GenesCLPTM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227019
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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