A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237533



Internal ID22373894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73142776..73154436hg38UCSC Ensembl
Outerchr17:71138915..71150575hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38894
hg19894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262233, nssv14261661, nssv14261662, nssv14262234, nssv14262237, nssv14262235, nssv14262236
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237533
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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