A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1199



Internal ID15199076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66236297..66258937hg38UCSC Ensembl
Outerchr1:66701980..66724620hg19UCSC Ensembl
Outerchr1:66474568..66497208hg18UCSC Ensembl
Outerchr1:66414001..66436641hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385286
hg195286
hg185286
hg175286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4283
SamplesNA12878
Known GenesPDE4B
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)nsv1199
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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