A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14347580



Internal ID22135624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70239244..70245569hg38UCSC Ensembl
chr9:72854160..72860485hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg386326
hg196326
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226641
Supporting Variants
SamplesHG00513
Known GenesSMC5-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14347580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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