A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053



Internal ID15547624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177825913..177870405hg38UCSC Ensembl
Outerchr2:178690640..178735132hg19UCSC Ensembl
Outerchr2:178398886..178443378hg18UCSC Ensembl
Outerchr2:178516147..178560639hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3844493
hg1944493
hg1844493
hg1744493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4656
SamplesNA19129
Known GenesPDE11A
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)nsv3053
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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