A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3056



Internal ID15194233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1873407..1903268hg38UCSC Ensembl
Outerchr20:1854053..1883914hg19UCSC Ensembl
Outerchr20:1802053..1831914hg18UCSC Ensembl
Outerchr20:1802053..1831914hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg387527
hg197527
hg187527
hg177527
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3257
Supporting Variants
SamplesNA18555
Known GenesSIRPA
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)nssv3056
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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