A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1090



Internal ID15198967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:75542241..75565818hg38UCSC Ensembl
Outerchr13:76116377..76139954hg19UCSC Ensembl
Outerchr13:75014378..75037955hg18UCSC Ensembl
Outerchr13:75014378..75037955hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3811330
hg1911330
hg1811330
hg1711330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152
SamplesNA19240
Known GenesUCHL3
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)nsv1090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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