A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539



Internal ID15197955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28901583..28936124hg38UCSC Ensembl
Outerchr6:28869360..28903901hg19UCSC Ensembl
Outerchr6:28977339..29011880hg18UCSC Ensembl
Outerchr6:28977339..29011880hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg386463
hg196463
hg186463
hg176463
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5238
Supporting Variants
SamplesNA19240
Known GenesTRIM27
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)nssv539
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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