A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198



Internal ID15201097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:229341777..229372836hg38UCSC Ensembl
Outerchr2:230206493..230237552hg19UCSC Ensembl
Outerchr2:229914737..229945796hg18UCSC Ensembl
Outerchr2:230031998..230063057hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg388688
hg198688
hg188688
hg178688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4507
SamplesNA12878
Known GenesDNER
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)nsv3198
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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