A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3260



Internal ID15547852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2488885..2517414hg38UCSC Ensembl
Outerchr20:2469531..2498060hg19UCSC Ensembl
Outerchr20:2417531..2446060hg18UCSC Ensembl
Outerchr20:2417531..2446060hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3810752
hg1910752
hg1810752
hg1710752
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5862
SamplesNA19129
Known GenesZNF343
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)nsv3260
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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