A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4240



Internal ID15548930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:13713185..13719550hg38UCSC Ensembl
Outerchr4:13714809..13721174hg19UCSC Ensembl
Outerchr4:13323907..13330272hg18UCSC Ensembl
Outerchr4:13391078..13397443hg17UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3812942
hg1912942
hg1812942
hg1712942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9638
SamplesNA18507
Known Genes
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)nsv4240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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