A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232207



Internal ID22372443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42607576..42636585hg38UCSC Ensembl
Outerchr9:44284380..44313193hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385787
hg195787
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283014, nssv14283015, nssv14283016
SamplesHG00512, NA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232207
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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