A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5305



Internal ID15550101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53416819..53448406hg38UCSC Ensembl
Outerchr6:53281617..53313204hg19UCSC Ensembl
Outerchr6:53389576..53421163hg18UCSC Ensembl
Outerchr6:53389576..53421163hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg387876
hg197876
hg187876
hg177876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10499
SamplesNA18956
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)nsv5305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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