A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222648



Internal ID22366660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67565624..67565711hg38UCSC Ensembl
chr17:65561740..65561827hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3610n152
Supporting Variantsnssv14282041, nssv14282044, nssv14282045, nssv14282040, nssv14282042, nssv14282043
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesPITPNC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222648
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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