A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226663



Internal ID22369385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73672467..73672884hg38UCSC Ensembl
chr14:74139170..74139587hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371229, nssv14371226, nssv14371228, nssv14371225, nssv14371230, nssv14371227
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known GenesDNAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226663
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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