A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4114



Internal ID15548791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:170725658..170759137hg38UCSC Ensembl
Outerchr3:170443447..170476926hg19UCSC Ensembl
Outerchr3:171926141..171959620hg18UCSC Ensembl
Outerchr3:171926149..171959628hg17UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg386546
hg196546
hg186546
hg176546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3116
SamplesNA18555
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)nsv4114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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