A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017



Internal ID15545580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:42409219..42439752hg38UCSC Ensembl
Outerchr13:42983355..43013888hg19UCSC Ensembl
Outerchr13:41881355..41911888hg18UCSC Ensembl
Outerchr13:41881355..41911888hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg389489
hg199489
hg189489
hg179489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2031
SamplesNA18555
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)nsv1017
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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