A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201660



Internal ID22350929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:142884037..142894981hg38UCSC Ensembl
Outerchr3:142602879..142613823hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3810945
hg1910945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270831, nssv14270832
SamplesNA19238, NA19240
Known GenesPCOLCE2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201660
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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