A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198227



Internal ID22347980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21328384..21377228hg38UCSC Ensembl
Outerchr4:21330007..21378851hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3848845
hg1948845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272347, nssv14272346, nssv14272348
SamplesHG00512, NA19238, NA19240
Known GenesKCNIP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198227
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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