A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262782



Internal ID22314434
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227019
Supporting Variants
SamplesNA19240
Known GenesCLPTM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262782
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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