A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244885



Internal ID22375986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96239621..96252020hg38UCSC Ensembl
Outerchr8:97251849..97264248hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383831
hg193831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281049, nssv14281050
SamplesHG00731, HG00733
Known GenesMTERFD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244885
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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