A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409



Internal ID15203529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:19404804..19409380hg38UCSC Ensembl
Outerchr1:19731298..19735874hg19UCSC Ensembl
Outerchr1:19603885..19608461hg18UCSC Ensembl
Outerchr1:19476604..19481180hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg388466
hg198466
hg188466
hg178466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934
SamplesNA18555
Known GenesCAPZB
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)nsv5409
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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