A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235581



Internal ID22373332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46965567..47005666hg38UCSC Ensembl
Outerchr17:45042933..45083032hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261223, nssv14261224
SamplesHG00512, HG00513
Known GenesMIR5089, RPRML
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235581
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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