A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv688



Internal ID15205147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42168197..42202800hg38UCSC Ensembl
Outerchr1:42633868..42668471hg19UCSC Ensembl
Outerchr1:42406455..42441058hg18UCSC Ensembl
Outerchr1:42302961..42337564hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385409
hg195409
hg185409
hg175409
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2935
SamplesNA18555
Known GenesFOXJ3
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)nsv688
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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