A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4406



Internal ID15539133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26341024..26360543hg38UCSC Ensembl
Outerchr2:26563892..26583411hg19UCSC Ensembl
Outerchr2:26417396..26436915hg18UCSC Ensembl
Outerchr2:26475543..26495062hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg385052
hg195052
hg185052
hg175052
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2650
Supporting Variants
SamplesNA12878
Known GenesEPT1, GPR113
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)nssv4406
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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