A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230843



Internal ID22372045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2102434..2127938hg38UCSC Ensembl
Outerchr17:2005728..2031232hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384403
hg194403
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261094, nssv14261093
SamplesNA19239, NA19240
Known GenesSMG6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230843
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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