A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4503



Internal ID15549219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:128337317..128372302hg38UCSC Ensembl
Outerchr4:129258472..129293457hg19UCSC Ensembl
Outerchr4:129477922..129512907hg18UCSC Ensembl
Outerchr4:129616077..129651062hg17UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg384760
hg194760
hg184760
hg174760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3281
SamplesNA12878
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)nsv4503
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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