A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5212



Internal ID15549999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:16476564..16508775hg38UCSC Ensembl
Outerchr6:16476795..16509006hg19UCSC Ensembl
Outerchr6:16584774..16616985hg18UCSC Ensembl
Outerchr6:16584774..16616985hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg387299
hg197299
hg187299
hg177299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10488
SamplesNA18956
Known GenesATXN1
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)nsv5212
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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