A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1337



Internal ID15545900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69917972..69976459hg38UCSC Ensembl
Outerchr14:70384689..70443176hg19UCSC Ensembl
Outerchr14:69454442..69512929hg18UCSC Ensembl
Outerchr14:69454442..69512929hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg385794
hg195794
hg185794
hg175794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4119, nssv5512
SamplesNA12878, NA19129
Known GenesSMOC1
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)nsv1337
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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