A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9378



Internal ID15193643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:279906..302360hg38UCSC Ensembl
Outerchr3:321589..344043hg19UCSC Ensembl
Outerchr3:296589..319043hg18UCSC Ensembl
Outerchr3:296589..319043hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3813630
hg1913630
hg1813630
hg1713630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3671
Supporting Variants
SamplesNA18517
Known GenesCHL1
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)nssv9378
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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