A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206325



Internal ID22354882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190928577..190928916hg38UCSC Ensembl
chr2:191793303..191793642hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295347
SamplesHG00731
Known GenesGLS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206325
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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