A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3347



Internal ID15547947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:31871679..31901524hg38UCSC Ensembl
Outerchr20:30459482..30489327hg19UCSC Ensembl
Outerchr20:29923143..29952988hg18UCSC Ensembl
Outerchr20:29923143..29952988hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3810344
hg1910344
hg1810344
hg1710344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10291, nssv9865
SamplesNA18507, NA18956
Known GenesTTLL9
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)nsv3347
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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