A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221675



Internal ID22365975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102248695..102262183hg38UCSC Ensembl
Outerchr7:101891975..101905463hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279679, nssv14279680, nssv14279681
SamplesHG00512, NA19239, HG00732
Known GenesCUX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221675
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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