A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217521



Internal ID22363155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154645855..154668453hg38UCSC Ensembl
Outerchr7:154437565..154460163hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3822599
hg1922599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8855n152
Supporting Variantsnssv14278832, nssv14278833, nssv14278834
SamplesHG00732, NA19240, HG00733
Known GenesDPP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217521
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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