A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212643



Internal ID22359824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45187285..45187672hg38UCSC Ensembl
chr17:43264652..43265039hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388899
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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