A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270242



Internal ID22255348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129557277..129573160hg38UCSC Ensembl
Outerchr3:129276120..129292003hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3815884
hg1915884
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202136
Supporting Variants
SamplesNA19238
Known GenesPLXND1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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