A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222127



Internal ID22366302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7463973..7501238hg38UCSC Ensembl
Outerchr4:7465700..7502965hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273982, nssv14273981
SamplesHG00512, HG00513
Known GenesSORCS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222127
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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