A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4859



Internal ID15543030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:119113486..119133263hg38UCSC Ensembl
Outerchr5:118449181..118468958hg19UCSC Ensembl
Outerchr5:118477080..118496857hg18UCSC Ensembl
Outerchr5:118477080..118496857hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg388059
hg198059
hg188059
hg178059
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4973
Supporting Variants
SamplesNA19129
Known GenesDMXL1
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)nssv4859
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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