A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv851



Internal ID15552872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:100376322..100421153hg38UCSC Ensembl
Outerchr12:100770100..100814931hg19UCSC Ensembl
Outerchr12:99294231..99339062hg18UCSC Ensembl
Outerchr12:99272568..99317399hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3844832
hg1944832
hg1844832
hg1744832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9069
SamplesNA12156
Known GenesSLC17A8
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)nsv851
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