A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv431



Internal ID15549006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:92303992..92338498hg38UCSC Ensembl
Outerchr11:92037158..92071664hg19UCSC Ensembl
Outerchr11:91676806..91711312hg18UCSC Ensembl
Outerchr11:91676806..91711312hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg385909
hg195909
hg185909
hg175909
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028, nssv8947, nssv5372
SamplesNA12156, NA19240, NA19129
Known Genes
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)nsv431
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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