A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14370994



Internal ID22137948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36789802..36789802hg38UCSC Ensembl
chr14:37259007..37259007hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560404
Supporting Variants
SamplesHG00513
Known GenesSLC25A21
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14370994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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