A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5033



Internal ID15203116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141599131..141630987hg38UCSC Ensembl
Outerchr5:140978698..141010554hg19UCSC Ensembl
Outerchr5:140958882..140990738hg18UCSC Ensembl
Outerchr5:140958882..140990738hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386416
hg196416
hg186416
hg176416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8159
SamplesNA12156
Known GenesDIAPH1, HDAC3
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)nsv5033
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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