A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468



Internal ID15203594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:126333192..126367304hg38UCSC Ensembl
Outerchr6:126654338..126688450hg19UCSC Ensembl
Outerchr6:126696031..126730143hg18UCSC Ensembl
Outerchr6:126696031..126730143hg17UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg385906
hg195906
hg185906
hg175906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2733
SamplesNA18555
Known GenesCENPW
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)nsv5468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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