A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9280



Internal ID15540231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:15381416..15433210hg38UCSC Ensembl
Outerchr12:15534350..15586144hg19UCSC Ensembl
Outerchr12:15425617..15477411hg18UCSC Ensembl
Outerchr12:15425617..15477411hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3851795
hg1951795
hg1851795
hg1751795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv622
Supporting Variants
SamplesNA18517
Known GenesPTPRO
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)nssv9280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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