A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1144



Internal ID15544592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49955551..49980838hg38UCSC Ensembl
Outerchr13:50529687..50554974hg19UCSC Ensembl
Outerchr13:49427688..49452975hg18UCSC Ensembl
Outerchr13:49427688..49452975hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3815596
hg1915596
hg1815596
hg1715596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1039
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1144
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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