A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4468



Internal ID15549180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:111689743..111723920hg38UCSC Ensembl
Outerchr4:112610899..112645076hg19UCSC Ensembl
Outerchr4:112830348..112864525hg18UCSC Ensembl
Outerchr4:112968503..113002680hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg386700
hg196700
hg186700
hg176700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3136, nssv7989
SamplesNA12156, NA18555
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)nsv4468
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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