A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233



Internal ID15201136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238303159..238335494hg38UCSC Ensembl
Outerchr2:239211800..239244135hg19UCSC Ensembl
Outerchr2:238876539..238908874hg18UCSC Ensembl
Outerchr2:238993800..239026135hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg387173
hg197173
hg187173
hg177173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10276
SamplesNA18956
Known GenesTRAF3IP1
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)nsv3233
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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