A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272114



Internal ID22262386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:71396078..71436169hg38UCSC Ensembl
Outerchr3:71445229..71485320hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381006
hg191006
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210689
Supporting Variants
SamplesNA19238
Known GenesFOXP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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