A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5291



Internal ID15550086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:48378837..48412282hg38UCSC Ensembl
Outerchr6:48346573..48380018hg19UCSC Ensembl
Outerchr6:48454532..48487977hg18UCSC Ensembl
Outerchr6:48454532..48487977hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386282
hg196282
hg186282
hg176282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3436
SamplesNA12878
Known Genes
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)nsv5291
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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