A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5841



Internal ID15196867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:196624586..196658026hg38UCSC Ensembl
Outerchr2:197489310..197522750hg19UCSC Ensembl
Outerchr2:197197555..197230995hg18UCSC Ensembl
Outerchr2:197314816..197348256hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385836
hg195836
hg185836
hg175836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3096
Supporting Variants
SamplesNA19129
Known GenesCCDC150
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)nssv5841
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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