A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4117



Internal ID15538844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63780624..63803852hg38UCSC Ensembl
Outerchr14:64247342..64270570hg19UCSC Ensembl
Outerchr14:63317095..63340323hg18UCSC Ensembl
Outerchr14:63317095..63340323hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg386364
hg196364
hg186364
hg176364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1305
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4117
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