A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5374



Internal ID15203491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:83542016..83576422hg38UCSC Ensembl
Outerchr6:84251735..84286141hg19UCSC Ensembl
Outerchr6:84308454..84342860hg18UCSC Ensembl
Outerchr6:84308454..84342860hg17UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg385338
hg195338
hg185338
hg175338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3454
SamplesNA12878
Known GenesSNAP91
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)nsv5374
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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