A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3166



Internal ID15201062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218371765..218405183hg38UCSC Ensembl
Outerchr2:219236488..219269906hg19UCSC Ensembl
Outerchr2:218944732..218978150hg18UCSC Ensembl
Outerchr2:219061993..219095411hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg387568
hg197568
hg187568
hg177568
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1570
SamplesNA19240
Known GenesCTDSP1, MIR26B, SLC11A1
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)nsv3166
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