A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260468



Internal ID22222293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:808083..847084hg38UCSC Ensembl
Outerchr17:711323..750324hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382022
hg192022
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235011
Supporting Variants
SamplesHG00733
Known GenesNXN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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