A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333087



Internal ID20866262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237055701..237057700hg38UCSC Ensembl
chr1:237219001..237221000hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202485
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333087
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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