A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277204



Internal ID22198787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147862595..147899820hg38UCSC Ensembl
Outerchr6:148183731..148220956hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213710
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277204
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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