A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4107



Internal ID15548783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:168692337..168737252hg38UCSC Ensembl
Outerchr3:168410125..168455040hg19UCSC Ensembl
Outerchr3:169892819..169937734hg18UCSC Ensembl
Outerchr3:169892827..169937742hg17UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3844916
hg1944916
hg1844916
hg1744916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7894
SamplesNA12156
Known GenesEGFEM1P
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)nsv4107
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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