A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv337



Internal ID15545120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145269722..145275627hg38UCSC Ensembl
Outerchr3:144987509..144993414hg19UCSC Ensembl
Outerchr3:146470199..146476104hg18UCSC Ensembl
Outerchr3:146470207..146476112hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg387956
hg197956
hg187956
hg177956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4045
Supporting Variants
SamplesNA19240
Known Genes
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)nssv337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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