A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151



Internal ID15197899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:75530903..75533742hg38UCSC Ensembl
Outerchr13:76105039..76107878hg19UCSC Ensembl
Outerchr13:75003040..75005879hg18UCSC Ensembl
Outerchr13:75003040..75005879hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3813417
hg1913417
hg1813417
hg1713417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1089
Supporting Variants
SamplesNA19240
Known GenesCOMMD6
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)nssv1151
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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