A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291577



Internal ID22272133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47831930..47832297hg38UCSC Ensembl
chr19:48335187..48335554hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533035
Supporting Variants
SamplesNA19239
Known GenesCRX
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291577
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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