A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278956



Internal ID22274115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:154382185..154386437hg38UCSC Ensembl
Outerchr6:154703319..154707571hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3816481
hg1916481
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230009
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278956
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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