A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6045332



Internal ID21954599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223636553..223636553hg38UCSC Ensembl
chr1:223824255..223824255hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536682
Samples
Known GenesCAPN8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6045332
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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