A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519



Internal ID15548136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38994054..39010563hg38UCSC Ensembl
Outerchr21:40365980..40382489hg19UCSC Ensembl
Outerchr21:39287850..39304359hg18UCSC Ensembl
Outerchr21:39287850..39304359hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg386097
hg196097
hg186097
hg176097
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3076
SamplesNA18555
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)nsv3519
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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