A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3637



Internal ID15191679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201414556..201449071hg38UCSC Ensembl
Outerchr1:201383684..201418199hg19UCSC Ensembl
Outerchr1:199650307..199684822hg18UCSC Ensembl
Outerchr1:198115341..198149856hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385228
hg195228
hg185228
hg175228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4065
Supporting Variants
SamplesNA12878
Known GenesTNNI1
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)nssv3637
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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