A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261109



Internal ID22201965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:10843641..10849527hg38UCSC Ensembl
Outerchr17:10746958..10752844hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239354
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261109
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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