A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5406



Internal ID15544038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:15393497..15422168hg38UCSC Ensembl
Outerchr12:15546431..15575102hg19UCSC Ensembl
Outerchr12:15437698..15466369hg18UCSC Ensembl
Outerchr12:15437698..15466369hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3828672
hg1928672
hg1828672
hg1728672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv622
Supporting Variants
SamplesNA19129
Known GenesPTPRO
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)nssv5406
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