A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4088



Internal ID15192129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:102688481..102718981hg38UCSC Ensembl
Outerchr13:103340831..103371331hg19UCSC Ensembl
Outerchr13:102138832..102169332hg18UCSC Ensembl
Outerchr13:102138832..102169332hg17UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg389241
hg199241
hg189241
hg179241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1157
Supporting Variants
SamplesNA12878
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)nssv4088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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