A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4848



Internal ID15549598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60367067..60401947hg38UCSC Ensembl
Outerchr5:59662894..59697774hg19UCSC Ensembl
Outerchr5:59698651..59733531hg18UCSC Ensembl
Outerchr5:59698651..59733531hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg386115
hg196115
hg186115
hg176115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv472
SamplesNA19240
Known GenesPDE4D
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)nsv4848
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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