A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7947



Internal ID15535917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44047657..44071197hg38UCSC Ensembl
Outerchr4:44049674..44073214hg19UCSC Ensembl
Outerchr4:43744431..43767971hg18UCSC Ensembl
Outerchr4:43890602..43914142hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg385452
hg195452
hg185452
hg175452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4316
Supporting Variants
SamplesNA12156
Known Genes
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)nssv7947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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