A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201177



Internal ID22350519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23790801..23797350hg38UCSC Ensembl
chr1:24117291..24123840hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386550
hg196550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141n152
Supporting Variantsnssv14355855, nssv14355857, nssv14355860, nssv14355859, nssv14355858, nssv14355856, nssv14355861, nssv14355862, nssv14355863
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGALE, LYPLA2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201177
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