A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488



Internal ID15550302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:134823758..134867876hg38UCSC Ensembl
Outerchr6:135144896..135189014hg19UCSC Ensembl
Outerchr6:135186589..135230707hg18UCSC Ensembl
Outerchr6:135186589..135230707hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3844119
hg1944119
hg1844119
hg1744119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3472
SamplesNA12878
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)nsv5488
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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