A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5989



Internal ID15537875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:29052831..29079712hg38UCSC Ensembl
Outerchr5:29052938..29079819hg19UCSC Ensembl
Outerchr5:29088695..29115576hg18UCSC Ensembl
Outerchr5:29088695..29115576hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg388433
hg198433
hg188433
hg178433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4774
Supporting Variants
SamplesNA12156
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)nssv5989
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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