A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6095353



Internal ID22004586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50260713..50260713hg38UCSC Ensembl
chr14:50727431..50727431hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17616315
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6095353
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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