A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4817



Internal ID15543104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7253089..7280318hg38UCSC Ensembl
Outerchr5:7253202..7280431hg19UCSC Ensembl
Outerchr5:7306202..7333431hg18UCSC Ensembl
Outerchr5:7306202..7333431hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg385658
hg195658
hg185658
hg175658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4703
Supporting Variants
SamplesNA19129
Known GenesMIR4454
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)nssv4817
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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