A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479



Internal ID15549534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:107957756..107988490hg38UCSC Ensembl
Outerchr11:107828482..107859216hg19UCSC Ensembl
Outerchr11:107333692..107364426hg18UCSC Ensembl
Outerchr11:107333692..107364426hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg388702
hg198702
hg188702
hg178702
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6483
SamplesNA12156
Known GenesRAB39A
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)nsv479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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