A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4699



Internal ID15549434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6812058..6845976hg38UCSC Ensembl
Outerchr5:6812171..6846089hg19UCSC Ensembl
Outerchr5:6865171..6899089hg18UCSC Ensembl
Outerchr5:6865171..6899089hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg385826
hg195826
hg185826
hg175826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3326
SamplesNA12878
Known GenesMIR4278
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)nsv4699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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