A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4596



Internal ID15202635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168228336..168263735hg38UCSC Ensembl
Outerchr4:169149487..169184886hg19UCSC Ensembl
Outerchr4:169386062..169421461hg18UCSC Ensembl
Outerchr4:169524217..169559616hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg384346
hg194346
hg184346
hg174346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3302
SamplesNA12878
Known GenesDDX60
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)nsv4596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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