A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv695



Internal ID15551910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:47649478..47694438hg38UCSC Ensembl
Outerchr12:48043261..48088221hg19UCSC Ensembl
Outerchr12:46329528..46374488hg18UCSC Ensembl
Outerchr12:46329528..46374488hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3844961
hg1944961
hg1844961
hg1744961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9026
SamplesNA12156
Known GenesRPAP3
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)nsv695
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