A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3096



Internal ID15200985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:196624586..196680061hg38UCSC Ensembl
Outerchr2:197489310..197544785hg19UCSC Ensembl
Outerchr2:197197555..197253030hg18UCSC Ensembl
Outerchr2:197314816..197370291hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385722
hg195722
hg185722
hg175722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3044, nssv5841
SamplesNA18555, NA19129
Known GenesCCDC150
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)nsv3096
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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