A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6088248



Internal ID21997481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102049988..102049988hg38UCSC Ensembl
chr14:102516325..102516325hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17614340
Samples
Known GenesDYNC1H1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6088248
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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