A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215616



Internal ID22361885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75533095..75545726hg38UCSC Ensembl
chr13:76107231..76119862hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3812632
hg1912632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366169, nssv14366171, nssv14366170
SamplesNA19238, NA19239, NA19240
Known GenesCOMMD6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215616
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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