A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4342



Internal ID15539069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8904132..8937514hg38UCSC Ensembl
Outerchr19:9014808..9048190hg19UCSC Ensembl
Outerchr19:8875808..8909190hg18UCSC Ensembl
Outerchr19:8875808..8909190hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386363
hg196363
hg186363
hg176363
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2407
Supporting Variants
SamplesNA12878
Known GenesMUC16
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)nssv4342
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