A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209445



Internal ID22357524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231004984..231005569hg38UCSC Ensembl
chr2:231869699..231870284hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298315, nssv14298316, nssv14298314
SamplesNA19238, HG00731, NA19240
Known GenesSPATA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209445
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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