A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4476



Internal ID15539203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166640876..166652253hg38UCSC Ensembl
Outerchr2:167497386..167508763hg19UCSC Ensembl
Outerchr2:167205632..167217009hg18UCSC Ensembl
Outerchr2:167322893..167334270hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg387203
hg197203
hg187203
hg177203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3018
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)nssv4476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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