A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206



Internal ID15547792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231814409..231882562hg38UCSC Ensembl
Outerchr2:232679119..232747272hg19UCSC Ensembl
Outerchr2:232387363..232455516hg18UCSC Ensembl
Outerchr2:232504624..232572777hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3868154
hg1968154
hg1868154
hg1768154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5853, nssv4508, nssv5854
SamplesNA12878, NA19129
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)nsv3206
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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