A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199212



Internal ID22348831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:74702232..74724683hg38UCSC Ensembl
Outerchr4:75627443..75649893hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3822452
hg1922451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272911, nssv14272912, nssv14271940, nssv14272910, nssv14271938, nssv14272913, nssv14271939
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199212
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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