A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228891



Internal ID22367212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:13932484..13971980hg38UCSC Ensembl
Outerchr3:13973981..14013480hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270978, nssv14271307, nssv14271310, nssv14271309, nssv14270979, nssv14271308, nssv14271304, nssv14271306, nssv14271305
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFGD5P1, TPRXL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228891
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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