A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6058



Internal ID15204243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6599506..6616816hg38UCSC Ensembl
Outerchr8:6457027..6474337hg19UCSC Ensembl
Outerchr8:6444435..6461745hg18UCSC Ensembl
Outerchr8:6444435..6461745hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386822
hg196822
hg186822
hg176822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10601
SamplesNA18956
Known GenesMCPH1
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)nsv6058
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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