A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192751



Internal ID22343291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:114200687..114312428hg38UCSC Ensembl
Outerchr4:115121843..115233584hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38111742
hg19111742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273015, nssv14273012, nssv14273013, nssv14273011, nssv14273010, nssv14273014
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192751
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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