A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5193



Internal ID15549978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:8351171..8385269hg38UCSC Ensembl
Outerchr6:8351404..8385502hg19UCSC Ensembl
Outerchr6:8296403..8330501hg18UCSC Ensembl
Outerchr6:8296403..8330501hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg385342
hg195342
hg185342
hg175342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8220
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)nsv5193
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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