A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527058



Internal ID22396442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72444757..72444882hg38UCSC Ensembl
chr14:72911465..72911590hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371198, nssv14371202, nssv14371200, nssv14371201, nssv14371199, nssv14371204, nssv14371205, nssv14371203
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesRGS6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527058
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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