A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2303



Internal ID15193968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168859032..168880454hg38UCSC Ensembl
Outerchr2:169715542..169736964hg19UCSC Ensembl
Outerchr2:169423788..169445210hg18UCSC Ensembl
Outerchr2:169541049..169562471hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3818603
hg1918603
hg1818603
hg1718603
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3023
Supporting Variants
SamplesNA18555
Known GenesNOSTRIN, SPC25
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)nssv2303
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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