A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270198



Internal ID22286121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105517421..105592349hg38UCSC Ensembl
Outerchr3:105236265..105311193hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3874929
hg1974929
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200715
Supporting Variants
SamplesNA19240
Known GenesALCAM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270198
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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