A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315579



Internal ID22226193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237591114..237591189hg38UCSC Ensembl
chr1:237754414..237754489hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200871
Supporting Variants
SamplesHG00733
Known GenesRYR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14315579
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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