A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217378



Internal ID22363057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141336178..141342663hg38UCSC Ensembl
Outerchr7:141035978..141042463hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278579, nssv14278580, nssv14278578
SamplesNA19238, HG00731, HG00732
Known GenesTMEM178B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217378
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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