A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261210



Internal ID22119522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35936461..35954183hg38UCSC Ensembl
Outerchr17:34263465..34281187hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382131
hg192131
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236961
Supporting Variants
SamplesHG00512
Known GenesLYZL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261210
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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