A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213684



Internal ID22360555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29285082..29297253hg38UCSC Ensembl
Outerchr17:27612100..27624271hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812172
hg1912172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3524n152
Supporting Variantsnssv14261375
SamplesHG00731
Known GenesNUFIP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213684
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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