A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3913



Internal ID15548570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:97221079..97254283hg38UCSC Ensembl
Outerchr3:96939923..96973127hg19UCSC Ensembl
Outerchr3:98422613..98455817hg18UCSC Ensembl
Outerchr3:98422613..98455817hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg386069
hg196069
hg186069
hg176069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5976
SamplesNA19129
Known GenesEPHA6
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)nsv3913
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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