A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1157



Internal ID15199034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:102684331..102718981hg38UCSC Ensembl
Outerchr13:103336681..103371331hg19UCSC Ensembl
Outerchr13:102134682..102169332hg18UCSC Ensembl
Outerchr13:102134682..102169332hg17UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg389241
hg199241
hg189241
hg179241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4088, nssv9955
SamplesNA18507, NA12878
Known GenesMETTL21C
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)nsv1157
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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