A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215231



Internal ID22361633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2035424..2035502hg38UCSC Ensembl
chr17:1938718..1938796hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3427n152
Supporting Variantsnssv14389169, nssv14387753, nssv14387119
SamplesHG00512, HG00513, HG00514
Known GenesDPH1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215231
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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