A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv414



Internal ID15548819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:83065466..83097416hg38UCSC Ensembl
Outerchr11:82776508..82808458hg19UCSC Ensembl
Outerchr11:82454156..82486106hg18UCSC Ensembl
Outerchr11:82454156..82486106hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg389050
hg199050
hg189050
hg179050
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1024
SamplesNA19240
Known GenesRAB30, RAB30-AS1
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)nsv414
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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