A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10156



Internal ID15542642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47026442..47027460hg38UCSC Ensembl
Outerchr18:44552813..44553831hg19UCSC Ensembl
Outerchr18:42806811..42807829hg18UCSC Ensembl
Outerchr18:42806811..42807829hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3837814
hg1937814
hg1837814
hg1737814
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2284
Supporting Variants
SamplesNA18956
Known GenesKATNAL2
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)nssv10156
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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