A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv836



Internal ID15206171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:96259232..96293939hg38UCSC Ensembl
Outerchr12:96653010..96687717hg19UCSC Ensembl
Outerchr12:95177141..95211848hg18UCSC Ensembl
Outerchr12:95155478..95190185hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385034
hg195034
hg185034
hg175034
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040
SamplesNA12878
Known GenesCDK17, ELK3
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)nsv836
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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