A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3386



Internal ID15191428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134976229..135008381hg38UCSC Ensembl
Outerchr5:134311919..134344071hg19UCSC Ensembl
Outerchr5:134339818..134371970hg18UCSC Ensembl
Outerchr5:134339818..134371970hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387596
hg197596
hg187596
hg177596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5013
Supporting Variants
SamplesNA12878
Known GenesCATSPER3
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)nssv3386
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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