A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1514



Internal ID15199391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:43567062..43704382hg38UCSC Ensembl
Outerchr15:43859260..43996580hg19UCSC Ensembl
Outerchr15:41646552..41783872hg18UCSC Ensembl
Outerchr15:41646552..41783872hg17UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38137321
hg19137321
hg18137321
hg17137321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4151, nssv9307, nssv10048
SamplesNA12878, NA18956, NA18517
Known GenesCATSPER2, CKMT1A, CKMT1B, PPIP5K1, RNU6-28P, STRC
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)nsv1514
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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