A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118



Internal ID15547695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:203597776..203642672hg38UCSC Ensembl
Outerchr2:204462499..204507395hg19UCSC Ensembl
Outerchr2:204170744..204215640hg18UCSC Ensembl
Outerchr2:204288005..204332901hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3844897
hg1944897
hg1844897
hg1744897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7600
SamplesNA12156
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)nsv3118
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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