A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214456



Internal ID22361110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71784574..71784630hg38UCSC Ensembl
chr17:69780715..69780771hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3630n152
Supporting Variantsnssv14282569, nssv14282570
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214456
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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