A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192672



Internal ID22343219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:111361472..111388621hg38UCSC Ensembl
Outerchr4:112282628..112309777hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3827150
hg1927150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273006, nssv14273007
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192672
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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