A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1228



Internal ID15545791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:29524831..29569889hg38UCSC Ensembl
Outerchr14:29994037..30039095hg19UCSC Ensembl
Outerchr14:29063788..29108846hg18UCSC Ensembl
Outerchr14:29063788..29108846hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3845059
hg1945059
hg1845059
hg1745059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9181
SamplesNA12156
Known GenesMIR548AI
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)nsv1228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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