A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279917



Internal ID22141289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143241825..143262395hg38UCSC Ensembl
Outerchr8:144323995..144344565hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381628
hg191628
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248201
Supporting Variants
SamplesHG00513
Known GenesZFP41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279917
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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