A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235654



Internal ID22373356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81304792..81366262hg38UCSC Ensembl
Outerchr17:79278592..79340062hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382756
hg192756
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262004, nssv14261998, nssv14262000, nssv14262003, nssv14262005, nssv14261999, nssv14262002, nssv14262001
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesLINC00482, TMEM105
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235654
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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