A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7050



Internal ID15536814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:170243547..170288994hg38UCSC Ensembl
Outerchr3:169961335..170006782hg19UCSC Ensembl
Outerchr3:171444029..171489476hg18UCSC Ensembl
Outerchr3:171444037..171489484hg17UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3845448
hg1945448
hg1845448
hg1745448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4112
Supporting Variants
SamplesNA12156
Known GenesPRKCI
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)nssv7050
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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