A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213802



Internal ID22360630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50249431..50249558hg38UCSC Ensembl
chr19:50752688..50752815hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291706, nssv14291704, nssv14291701, nssv14291705, nssv14291703, nssv14291702
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesMYH14
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213802
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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