A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237845



Internal ID22373986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11020515..11110716hg38UCSC Ensembl
Outerchr12:11173114..11263315hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3833849
hg1933849
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1732n152
Supporting Variantsnssv14255280, nssv14255282, nssv14255281, nssv14255279, nssv14255278
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, TAS2R43, TAS2R46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237845
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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