A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226284



Internal ID22369139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151664469..151675585hg38UCSC Ensembl
Outerchr3:151382257..151393373hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3810532
hg1910532
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271593, nssv14271595, nssv14271598, nssv14271596, nssv14271597, nssv14271594
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesMIR548H2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226284
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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