A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2892



Internal ID15547455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118877401..118929230hg38UCSC Ensembl
Outerchr2:119634977..119686806hg19UCSC Ensembl
Outerchr2:119351447..119403276hg18UCSC Ensembl
Outerchr2:119351207..119403036hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3851830
hg1951830
hg1851830
hg1751830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1533, nssv10232, nssv2289
SamplesNA18956, NA18555, NA19240
Known Genes
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)nsv2892
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