A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16270708



Internal ID20479926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68935888..68935888hg38UCSC Ensembl
chr14:69402605..69402605hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4755674
Supporting Variants
Samples
Known GenesACTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16270708
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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