A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1568



Internal ID15198821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207785598..207818655hg38UCSC Ensembl
Outerchr2:208650322..208683379hg19UCSC Ensembl
Outerchr2:208358567..208391624hg18UCSC Ensembl
Outerchr2:208475828..208508885hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387939
hg197939
hg187939
hg177939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3133
Supporting Variants
SamplesNA19240
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)nssv1568
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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