A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248197



Internal ID22376911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42394206..42400597hg38UCSC Ensembl
Outerchr17:40546224..40552615hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381064
hg191064
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261577, nssv14261578, nssv14261584, nssv14261581, nssv14261579, nssv14261582, nssv14261583, nssv14261580
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248197
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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