A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3385



Internal ID15201303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43641073..43676907hg38UCSC Ensembl
Outerchr20:42269713..42305547hg19UCSC Ensembl
Outerchr20:41703127..41738961hg18UCSC Ensembl
Outerchr20:41703127..41738961hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3835835
hg1935835
hg1835835
hg1735835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2333
SamplesNA18555
Known GenesIFT52, MYBL2
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)nsv3385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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