A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4050



Internal ID15548721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:147961423..147966317hg38UCSC Ensembl
Outerchr3:147679210..147684104hg19UCSC Ensembl
Outerchr3:149161900..149166794hg18UCSC Ensembl
Outerchr3:149161908..149166802hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg386524
hg196524
hg186524
hg176524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv338
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)nsv4050
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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