A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3425



Internal ID15201347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57519933..57554966hg38UCSC Ensembl
Outerchr20:56094989..56130022hg19UCSC Ensembl
Outerchr20:55528395..55563428hg18UCSC Ensembl
Outerchr20:55528395..55563428hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg384696
hg194696
hg184696
hg174696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4545
SamplesNA12878
Known GenesCTCFL
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)nsv3425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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