A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271000



Internal ID22253192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:69106249..69161716hg38UCSC Ensembl
Outerchr3:69155400..69210867hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3855468
hg1955468
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195586
Supporting Variants
SamplesNA19238
Known GenesLMOD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271000
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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