A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323121



Internal ID20856237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223696098..223736128hg38UCSC Ensembl
chr1:223883800..223923830hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3840031
hg1940031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202665
Samples
Known GenesCAPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323121
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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