A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14370301



Internal ID22234456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63985330..63993301hg38UCSC Ensembl
chr14:64452048..64460019hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387972
hg197972
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221921
Supporting Variants
SamplesHG00733
Known GenesMIR548AZ, SYNE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14370301
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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