A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2195



Internal ID15541478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47027534..47040100hg38UCSC Ensembl
Outerchr18:44553905..44566471hg19UCSC Ensembl
Outerchr18:42807903..42820469hg18UCSC Ensembl
Outerchr18:42807903..42820469hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3821698
hg1921698
hg1821698
hg1721698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2284
Supporting Variants
SamplesNA18555
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)nssv2195
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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