A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv865



Internal ID15552886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103636324..103681086hg38UCSC Ensembl
Outerchr12:104030102..104074864hg19UCSC Ensembl
Outerchr12:102554232..102598994hg18UCSC Ensembl
Outerchr12:102532569..102577331hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3844763
hg1944763
hg1844763
hg1744763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9072
SamplesNA12156
Known GenesSTAB2
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)nsv865
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