A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240700



Internal ID22374767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8165826..8185839hg38UCSC Ensembl
Outerchr17:8069144..8089157hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381334
hg191334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261033, nssv14261032, nssv14261034
SamplesHG00512, NA19238, HG00513
Known GenesTMEM107
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240700
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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