A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192948



Internal ID22343462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185540050..185567860hg38UCSC Ensembl
Outerchr3:185257838..185285648hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3827811
hg1927811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271273
SamplesNA19238
Known GenesLIPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192948
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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