A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5471



Internal ID15544001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36870817..36896075hg38UCSC Ensembl
Outerchr13:37444954..37470212hg19UCSC Ensembl
Outerchr13:36342954..36368212hg18UCSC Ensembl
Outerchr13:36342954..36368212hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3814020
hg1914020
hg1814020
hg1714020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006
Supporting Variants
SamplesNA19129
Known GenesSMAD9
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)nssv5471
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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