A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279423



Internal ID22184681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157825684..157843790hg38UCSC Ensembl
Outerchr6:158246716..158264822hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221914
Supporting Variants
SamplesHG00731
Known GenesSNX9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279423
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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