A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10157



Internal ID15542641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47028111..47043660hg38UCSC Ensembl
Outerchr18:44554482..44570031hg19UCSC Ensembl
Outerchr18:42808480..42824029hg18UCSC Ensembl
Outerchr18:42808480..42824029hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3817328
hg1917328
hg1817328
hg1717328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2284
Supporting Variants
SamplesNA18956
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)nssv10157
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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