A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693337



Internal ID15429989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38578001..38584752hg38UCSC Ensembl
Innerchr19:39068641..39075392hg19UCSC Ensembl
Innerchr19:43760481..43767232hg18UCSC Ensembl
Innerchr19:43760481..43767232hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386752
hg196752
hg186752
hg176752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521114
Supporting Variants
Samples
Known GenesRYR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693337
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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