A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279384



Internal ID22199185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41202261..41221417hg38UCSC Ensembl
Outerchr6:41169999..41189155hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228463
Supporting Variants
SamplesHG00732
Known GenesTREML3P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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