A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3131



Internal ID15547710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207578177..207624543hg38UCSC Ensembl
Outerchr2:208442901..208489267hg19UCSC Ensembl
Outerchr2:208151146..208197512hg18UCSC Ensembl
Outerchr2:208268407..208314773hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3846367
hg1946367
hg1846367
hg1746367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5844
SamplesNA19129
Known GenesCREB1, METTL21A
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3131
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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