A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2284



Internal ID15546847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47024467..47043660hg38UCSC Ensembl
Outerchr18:44550838..44570031hg19UCSC Ensembl
Outerchr18:42804836..42824029hg18UCSC Ensembl
Outerchr18:42804836..42824029hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3823196
hg1923196
hg1823196
hg1723196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2195, nssv1404, nssv9549, nssv6760, nssv9851, nssv5699, nssv10986, nssv9328, nssv10155, nssv10157, nssv5698, nssv9976, nssv6759, nssv4323, nssv10156, nssv9975
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesKATNAL2, TCEB3B, TCEB3C, TCEB3CL
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)nsv2284
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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