A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215991



Internal ID22362136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99200358..99224312hg38UCSC Ensembl
Outerchr7:98797981..98821935hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385786
hg195786
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277937, nssv14277935, nssv14277933, nssv14277938, nssv14277934, nssv14277936, nssv14279322, nssv14277939, nssv14279321
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKPNA7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215991
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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