A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1844



Internal ID15199721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67868325..67917356hg38UCSC Ensembl
Outerchr16:67902228..67951259hg19UCSC Ensembl
Outerchr16:66459729..66508760hg18UCSC Ensembl
Outerchr16:66459729..66508760hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3849032
hg1949032
hg1849032
hg1749032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9963, nssv1314, nssv4220
SamplesNA18507, NA12878, NA19240
Known GenesEDC4, NRN1L, NUTF2, PSKH1
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)nsv1844
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