A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240462



Internal ID22374709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93617364..93623448hg38UCSC Ensembl
Outerchr9:96379646..96385730hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283573, nssv14283575, nssv14283574, nssv14283572, nssv14283576
SamplesNA19238, NA19239, HG00731, HG00733, HG00513
Known GenesPHF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240462
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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