A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217742



Internal ID22363304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35041851..35058008hg38UCSC Ensembl
Outerchr7:35081463..35097620hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg389917
hg199917
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278505, nssv14278506
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217742
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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