A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4466



Internal ID15539193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146017215..146052517hg38UCSC Ensembl
Outerchr2:146774783..146810085hg19UCSC Ensembl
Outerchr2:146491253..146526555hg18UCSC Ensembl
Outerchr2:146608515..146643817hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg384413
hg194413
hg184413
hg174413
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2959
Supporting Variants
SamplesNA12878
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)nssv4466
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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