A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220



Internal ID15202222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8217124..8250778hg38UCSC Ensembl
Outerchr4:8218851..8252505hg19UCSC Ensembl
Outerchr4:8269751..8303405hg18UCSC Ensembl
Outerchr4:8336922..8370576hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg386094
hg196094
hg186094
hg176094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3232
SamplesNA12878
Known GenesSH3TC1
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)nsv4220
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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