A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv911



Internal ID15206246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121796618..121841519hg38UCSC Ensembl
Outerchr12:122234524..122279425hg19UCSC Ensembl
Outerchr12:120718907..120763808hg18UCSC Ensembl
Outerchr12:120697244..120742145hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3844902
hg1944902
hg1844902
hg1744902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5456
SamplesNA19129
Known GenesHPD, LOC338799, SETD1B
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)nsv911
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer