A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214677



Internal ID22361260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50654826..50655141hg38UCSC Ensembl
chr17:48732187..48732502hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387192, nssv14389874
SamplesNA19240, HG00513
Known GenesABCC3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214677
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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