A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223725



Internal ID22367409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93649035..93744169hg38UCSC Ensembl
Outerchr9:96411317..96506451hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3895135
hg1995135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281243, nssv14281244, nssv14281245
SamplesNA19238, HG00513, HG00514
Known GenesPHF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223725
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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