A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529481



Internal ID22398873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2191829..2191885hg38UCSC Ensembl
chr12:2300995..2301051hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1683n152
Supporting Variantsnssv14361832, nssv14361830, nssv14361829, nssv14361833, nssv14361828, nssv14361831
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesCACNA1C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529481
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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