A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4172



Internal ID15548855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192488399..192521978hg38UCSC Ensembl
Outerchr3:192206188..192239767hg19UCSC Ensembl
Outerchr3:193688882..193722461hg18UCSC Ensembl
Outerchr3:193688890..193722469hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg385855
hg195855
hg185855
hg175855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7909
SamplesNA12156
Known GenesFGF12
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)nsv4172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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