A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4817



Internal ID15549564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:45334496..45368005hg38UCSC Ensembl
Outerchr5:45334598..45368107hg19UCSC Ensembl
Outerchr5:45370355..45403864hg18UCSC Ensembl
Outerchr5:45370355..45403864hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg385774
hg195774
hg185774
hg175774
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4832
SamplesNA19129
Known GenesHCN1
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)nsv4817
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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