A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6058780



Internal ID21968013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236749081..236749081hg38UCSC Ensembl
chr1:236912381..236912381hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17535073
Samples
Known GenesACTN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6058780
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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