A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801344



Internal ID21246682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237591087..237591161hg38UCSC Ensembl
chr1:237754387..237754461hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13699733
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801344
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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