A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219312



Internal ID22364369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75040022..75094199hg38UCSC Ensembl
Outerchr7:74454126..74509990hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381936
hg191936
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279662, nssv14279661, nssv14279660, nssv14279663
SamplesNA19239, HG00732, HG00733, HG00514
Known GenesGTF2IRD2, GTF2IRD2B, WBSCR16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219312
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer