A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7728



Internal ID8519748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:31803356..31848393hg38UCSC Ensembl
Outerchr11:31824904..31869939hg19UCSC Ensembl
Outerchr11:31781480..31826515hg18UCSC Ensembl
Outerchr11:31781480..31826515hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3845038
hg1945036
hg1845036
hg1745036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8896
SamplesNA12156
Known GenesDKFZp686K1684, PAX6
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)nsv7728
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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