A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559749



Internal ID22428545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40448629..40448629hg38UCSC Ensembl
chr12:40842431..40842431hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363138, nssv14363139, nssv14363137
SamplesHG00731, HG00732, HG00733
Known GenesMUC19
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559749
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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