A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221851



Internal ID22366101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154647523..154672108hg38UCSC Ensembl
Outerchr7:154439233..154463818hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3824586
hg1924586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8855n152
Supporting Variantsnssv14278200, nssv14278201, nssv14278199, nssv14278202
SamplesHG00512, NA19238, NA19239, HG00514
Known GenesDPP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221851
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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