A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4012



Internal ID15548679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132239334..132285252hg38UCSC Ensembl
Outerchr3:131958178..132004096hg19UCSC Ensembl
Outerchr3:133440868..133486786hg18UCSC Ensembl
Outerchr3:133440876..133486794hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3845919
hg1945919
hg1845919
hg1745919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4683, nssv10361, nssv329
SamplesNA18956, NA19240, NA19129
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)nsv4012
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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