A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277182



Internal ID22192277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166983367..166998690hg38UCSC Ensembl
Outerchr6:167396855..167412178hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381539
hg191539
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220577
Supporting Variants
SamplesHG00731
Known GenesMIR3939
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277182
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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