A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438



Internal ID15550247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:109918267..109948912hg38UCSC Ensembl
Outerchr6:110239470..110270115hg19UCSC Ensembl
Outerchr6:110346163..110376808hg18UCSC Ensembl
Outerchr6:110346163..110376808hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg388620
hg198620
hg188620
hg178620
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4938
SamplesNA19129
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)nsv5438
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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