A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217697



Internal ID22363271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3169501..3182305hg38UCSC Ensembl
Outerchr19:3169499..3182303hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812805
hg1912805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263296, nssv14263298, nssv14263297
SamplesNA19240, HG00733, HG00514
Known GenesS1PR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217697
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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