A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228416



Internal ID22370602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:27474491..27490735hg38UCSC Ensembl
Outerchr3:27515982..27532226hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271818, nssv14271817, nssv14271815, nssv14271816
SamplesHG00512, NA19239, HG00731, HG00514
Known GenesSLC4A7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228416
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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