A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236961



Internal ID22373748
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261210
SamplesHG00512
Known GenesLYZL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236961
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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