A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4494



Internal ID15192535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:203315491..203357486hg38UCSC Ensembl
Outerchr2:204180214..204222209hg19UCSC Ensembl
Outerchr2:203888459..203930454hg18UCSC Ensembl
Outerchr2:204005720..204047715hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3841996
hg1941996
hg1841996
hg1741996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3115
Supporting Variants
SamplesNA12878
Known GenesABI2
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)nssv4494
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