A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5339



Internal ID15550138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69160231..69192388hg38UCSC Ensembl
Outerchr6:69870123..69902280hg19UCSC Ensembl
Outerchr6:69926844..69959001hg18UCSC Ensembl
Outerchr6:69926844..69959001hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg388834
hg198834
hg188834
hg178834
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv559
SamplesNA19240
Known GenesBAI3
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)nsv5339
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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