A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441



Internal ID8517233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111164070..111192212hg38UCSC Ensembl
Outerchr6:111485273..111513415hg19UCSC Ensembl
Outerchr6:111591966..111620108hg18UCSC Ensembl
Outerchr6:111591966..111620108hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg388306
hg198306
hg188306
hg178306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8284
SamplesNA12156
Known GenesSLC16A10
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)nsv5441
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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