A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371541



Internal ID22150142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252272..51252272hg38UCSC Ensembl
chr14:51718990..51718990hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560411
Supporting Variants
SamplesHG00514
Known GenesTMX1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371541
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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