A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4192



Internal ID15548877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:18204..49754hg38UCSC Ensembl
Outerchr4:18204..49648hg19UCSC Ensembl
Outerchr4:8204..39648hg18UCSC Ensembl
Outerchr4:8204..39648hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385766
hg195766
hg185766
hg175766
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11079, nssv3227
SamplesNA12878, NA15510
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)nsv4192
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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