A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv394



Internal ID15548599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76109503..76154733hg38UCSC Ensembl
Outerchr11:75820547..75865777hg19UCSC Ensembl
Outerchr11:75498195..75543425hg18UCSC Ensembl
Outerchr11:75498195..75543425hg17UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3845231
hg1945231
hg1845231
hg1745231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8935
SamplesNA12156
Known GenesUVRAG
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)nsv394
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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