A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222164



Internal ID22366328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55742401..55745450hg38UCSC Ensembl
chr12:56136185..56139234hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1857n152
Supporting Variantsnssv14363545, nssv14363544, nssv14363543, nssv14363537, nssv14363541, nssv14363538, nssv14363539, nssv14363540, nssv14363542
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGDF11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222164
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer