A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4781



Internal ID15202839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33793652..33817934hg38UCSC Ensembl
Outerchr5:33793757..33818039hg19UCSC Ensembl
Outerchr5:33829514..33853796hg18UCSC Ensembl
Outerchr5:33829514..33853796hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg387465
hg197465
hg187465
hg177465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3342
SamplesNA12878
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)nsv4781
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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