A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8141



Internal ID15535723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:119106680..119128682hg38UCSC Ensembl
Outerchr5:118442375..118464377hg19UCSC Ensembl
Outerchr5:118470274..118492276hg18UCSC Ensembl
Outerchr5:118470274..118492276hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg386306
hg196306
hg186306
hg176306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4973
Supporting Variants
SamplesNA12156
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)nssv8141
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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