A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4780



Internal ID15202838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33623286..33654130hg38UCSC Ensembl
Outerchr5:33623391..33654235hg19UCSC Ensembl
Outerchr5:33659148..33689992hg18UCSC Ensembl
Outerchr5:33659148..33689992hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385924
hg195924
hg185924
hg175924
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3341, nssv2691
SamplesNA12878, NA18555
Known GenesADAMTS12
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)nsv4780
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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