A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229939



Internal ID22371626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14391296..14403456hg38UCSC Ensembl
Outerchr3:14432796..14444964hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5880n152
Supporting Variantsnssv14271317, nssv14271312, nssv14271311, nssv14271316, nssv14271315, nssv14271314, nssv14271313
SamplesHG00512, NA19238, NA19239, HG00731, HG00733, HG00513, HG00514
Known GenesSLC6A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229939
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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