A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453



Internal ID15203578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:118792655..118825738hg38UCSC Ensembl
Outerchr6:119113818..119146901hg19UCSC Ensembl
Outerchr6:119220511..119253593hg18UCSC Ensembl
Outerchr6:119220511..119253593hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386185
hg196185
hg186185
hg176185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4939
SamplesNA19129
Known GenesMCM9
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)nsv5453
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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