A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486



Internal ID15550300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133717931..133753232hg38UCSC Ensembl
Outerchr6:134039069..134074370hg19UCSC Ensembl
Outerchr6:134080762..134116063hg18UCSC Ensembl
Outerchr6:134080762..134116063hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385700
hg195700
hg185700
hg175700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv584
SamplesNA19240
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)nsv5486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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