A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4691



Internal ID15549426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:5131643..5162687hg38UCSC Ensembl
Outerchr5:5131756..5162800hg19UCSC Ensembl
Outerchr5:5184756..5215800hg18UCSC Ensembl
Outerchr5:5184756..5215800hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg388816
hg198816
hg188816
hg178816
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11098
SamplesNA15510
Known GenesADAMTS16
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)nsv4691
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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