A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4889



Internal ID15202957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77387171..77419458hg38UCSC Ensembl
Outerchr5:76682996..76715283hg19UCSC Ensembl
Outerchr5:76718752..76751039hg18UCSC Ensembl
Outerchr5:76718752..76751039hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg387704
hg197704
hg187704
hg177704
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2527
SamplesNA18555
Known GenesPDE8B
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)nsv4889
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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