A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3389



Internal ID15201307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44304429..44338914hg38UCSC Ensembl
Outerchr20:42933069..42967554hg19UCSC Ensembl
Outerchr20:42366483..42400968hg18UCSC Ensembl
Outerchr20:42366483..42400968hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg385255
hg195255
hg185255
hg175255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4535
SamplesNA12878
Known GenesFITM2, R3HDML
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)nsv3389
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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