A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5846



Internal ID15543548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208093100..208114580hg38UCSC Ensembl
Outerchr2:208957824..208979304hg19UCSC Ensembl
Outerchr2:208666069..208687549hg18UCSC Ensembl
Outerchr2:208783330..208804810hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385920
hg195920
hg185920
hg175920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3136
Supporting Variants
SamplesNA19129
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)nssv5846
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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