A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277632



Internal ID22259939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:154515602..154527284hg38UCSC Ensembl
Outerchr6:154836736..154848418hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229166
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277632
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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