A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224186



Internal ID22367692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52201013..52201920hg38UCSC Ensembl
chr15:52493210..52494117hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374815, nssv14384806
SamplesHG00513, HG00514
Known GenesLOC100129973, MYO5C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224186
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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