A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv348



Internal ID8515075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:62706978..62752240hg38UCSC Ensembl
Outerchr11:62474450..62519712hg19UCSC Ensembl
Outerchr11:62231026..62276288hg18UCSC Ensembl
Outerchr11:62231026..62276288hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3845263
hg1945263
hg1845263
hg1745263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8921
SamplesNA12156
Known GenesBSCL2, GNG3, HNRNPUL2, HNRNPUL2-BSCL2, TTC9C, ZBTB3
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)nsv348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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