A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250044



Internal ID22377437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31820831..31823538hg38UCSC Ensembl
chr2:32045900..32048607hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382708
hg192708
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292210, nssv14292216, nssv14292212, nssv14292213, nssv14292215, nssv14292214, nssv14292209, nssv14292217, nssv14292211
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250044
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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