A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv419



Internal ID15202188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:86968931..87003831hg38UCSC Ensembl
Outerchr11:86679973..86714873hg19UCSC Ensembl
Outerchr11:86357621..86392521hg18UCSC Ensembl
Outerchr11:86357621..86392521hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg384826
hg194826
hg184826
hg174826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972
SamplesNA12878
Known GenesLOC100506368
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)nsv419
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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