A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4283



Internal ID15192324
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 StatusS
Merged Variantsnsv1199
Supporting Variants
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)nssv4283
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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