A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236



Internal ID15201139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240037431..240067330hg38UCSC Ensembl
Outerchr2:240976848..241006747hg19UCSC Ensembl
Outerchr2:240625521..240655420hg18UCSC Ensembl
Outerchr2:240696838..240726737hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389608
hg199608
hg189608
hg179608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10277
SamplesNA18956
Known GenesOR6B3, PRR21
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)nsv3236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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