A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273996



Internal ID22186532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:127904155..127940784hg38UCSC Ensembl
Outerchr4:128825310..128861939hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227731
Supporting Variants
SamplesHG00731
Known GenesMFSD8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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