A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3233



Internal ID15191275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8618523..8631451hg38UCSC Ensembl
Outerchr4:8620250..8633177hg19UCSC Ensembl
Outerchr4:8671150..8684077hg18UCSC Ensembl
Outerchr4:8738321..8751248hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3810114
hg1910114
hg1810114
hg1710114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4225
Supporting Variants
SamplesNA12878
Known GenesCPZ
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)nssv3233
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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