A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801



Internal ID15547364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:79838500..79873039hg38UCSC Ensembl
Outerchr2:80065626..80100165hg19UCSC Ensembl
Outerchr2:79919134..79953673hg18UCSC Ensembl
Outerchr2:79977281..80011820hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg385182
hg195182
hg185182
hg175182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4426
SamplesNA12878
Known GenesCTNNA2, MIR8080
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)nsv2801
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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