A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280674



Internal ID22254467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:133212452..133219012hg38UCSC Ensembl
Outerchr8:134224695..134231255hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232880
Supporting Variants
SamplesNA19238
Known GenesWISP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280674
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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