A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3067



Internal ID15547639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:183214691..183255229hg38UCSC Ensembl
Outerchr2:184079419..184119957hg19UCSC Ensembl
Outerchr2:183787664..183828202hg18UCSC Ensembl
Outerchr2:183904925..183945463hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3840539
hg1940539
hg1840539
hg1740539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4486
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)nsv3067
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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