A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101403



Internal ID21282182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38503876..38505305hg38UCSC Ensembl
Innerchr19:38994516..38995945hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114872
Supporting Variants
Samplessample322
Known GenesRYR1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101403
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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