A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277089



Internal ID22260354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138620160..138629223hg38UCSC Ensembl
Outerchr6:138941297..138950360hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383279
hg193279
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214738
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277089
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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