A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1423



Internal ID15545986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99692548..99711959hg38UCSC Ensembl
Outerchr14:100158885..100178296hg19UCSC Ensembl
Outerchr14:99228638..99248049hg18UCSC Ensembl
Outerchr14:99228638..99248049hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3819412
hg1919412
hg1819412
hg1719412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9240
SamplesNA12156
Known GenesCYP46A1
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)nsv1423
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