A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478



Internal ID15550291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131314198..131348004hg38UCSC Ensembl
Outerchr6:131635338..131669144hg19UCSC Ensembl
Outerchr6:131677031..131710837hg18UCSC Ensembl
Outerchr6:131677031..131710837hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385942
hg195942
hg185942
hg175942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3469
SamplesNA12878
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)nsv5478
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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