A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11145



Internal ID15192748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198503483..198518859hg38UCSC Ensembl
Outerchr1:198472613..198487989hg19UCSC Ensembl
Outerchr1:196739236..196754612hg18UCSC Ensembl
Outerchr1:195204270..195219646hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811382
hg1911382
hg1811382
hg1711382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4043
Supporting Variants
SamplesNA15510
Known Genes
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)nssv11145
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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