A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1729



Internal ID15199606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7344097..7388421hg38UCSC Ensembl
Outerchr16:7394098..7438422hg19UCSC Ensembl
Outerchr16:7334099..7378423hg18UCSC Ensembl
Outerchr16:7334099..7378423hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3844325
hg1944325
hg1844325
hg1744325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2132
SamplesNA18555
Known GenesRBFOX1
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)nsv1729
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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