A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3139



Internal ID15547718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209050594..209099995hg38UCSC Ensembl
Outerchr2:209915318..209964719hg19UCSC Ensembl
Outerchr2:209623563..209672964hg18UCSC Ensembl
Outerchr2:209740824..209790225hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3849402
hg1949402
hg1849402
hg1749402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9587, nssv4501, nssv7607, nssv5847
SamplesNA18507, NA12156, NA12878, 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)nsv3139
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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