A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5369



Internal ID15550171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:79880592..79907923hg38UCSC Ensembl
Outerchr6:80590309..80617640hg19UCSC Ensembl
Outerchr6:80647028..80674359hg18UCSC Ensembl
Outerchr6:80647028..80674359hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg385924
hg195924
hg185924
hg175924
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4927
SamplesNA19129
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)nsv5369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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