A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4873



Internal ID15543004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157750462..157780450hg38UCSC Ensembl
Outerchr5:157177470..157207458hg19UCSC Ensembl
Outerchr5:157110048..157140036hg18UCSC Ensembl
Outerchr5:157110048..157140036hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385812
hg195812
hg185812
hg175812
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5090
Supporting Variants
SamplesNA19129
Known GenesLSM11
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)nssv4873
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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